Publications by authors named "Maria Szczepanska"

105 Publications

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

Hum Mutat 2021 Feb 18. Epub 2021 Feb 18.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex disorder. Eleven novel variants in CNNM2 were identified in nine single sporadic cases and in two families with suspected HSMR syndrome. Mg uptake assays demonstrated loss-of-function in seven out of nine variants in CNNM2. Interestingly, the pathogenic mutations resulted in decreased plasma membrane expression. The phenotype of those affected by pathogenic CNNM2 mutations was compared with five previously reported cases of HSMR. All patients suffered from hypomagnesemia (0.44-0.72 mmol/L), which could not be fully corrected by Mg supplementation. The majority of patients (77%) experienced generalized seizures and exhibited mild to moderate intellectual disability and speech delay. Moreover, severe obesity was present in most patients (89%). Our data establish hypomagnesemia, seizures, intellectual disability, and obesity as hallmarks of HSMR syndrome. The assessment of these major features offers a straightforward tool for the clinical diagnosis of HSMR.
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http://dx.doi.org/10.1002/humu.24182DOI Listing
February 2021

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

J Am Soc Nephrol 2021 Feb 17. Epub 2021 Feb 17.

Division of Nephrology, Department of Medicine, Columbia University, New York, New York

Background: Vesicoureteral reflux (VUR) is a common, familial genitourinary disorder, and a major cause of pediatric urinary tract infection (UTI) and kidney failure. The genetic basis of VUR is not well understood.

Methods: A diagnostic analysis sought rare, pathogenic copy number variant (CNV) disorders among 1737 patients with VUR. A GWAS was performed in 1395 patients and 5366 controls, of European ancestry.

Results: Altogether, 3% of VUR patients harbored an undiagnosed rare CNV disorder, such as the 1q21.1, 16p11.2, 22q11.21, and triple X syndromes ((OR, 3.12; 95% CI, 2.10 to 4.54; =6.35×10) The GWAS identified three study-wide significant and five suggestive loci with large effects (ORs, 1.41-6.9), containing canonical developmental genes expressed in the developing urinary tract ( and ). In particular, 3.3% of VUR patients were homozygous for an intronic variant in (rs13013890; OR, 3.65; 95% CI, 2.39 to 5.56; =1.86×10). This locus was associated with multiple genitourinary phenotypes in the UK Biobank and eMERGE studies. Analysis of mutant mice confirmed the role of Wnt5a signaling in bladder and ureteric morphogenesis.

Conclusions: These data demonstrate the genetic heterogeneity of VUR. Altogether, 6% of patients with VUR harbored a rare CNV or a common variant genotype conferring an OR >3. Identification of these genetic risk factors has multiple implications for clinical care and for analysis of outcomes in VUR.
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http://dx.doi.org/10.1681/ASN.2020050681DOI Listing
February 2021

Mortality in Children Treated With Maintenance Peritoneal Dialysis: Findings From the International Pediatric Peritoneal Dialysis Network Registry.

Am J Kidney Dis 2021 Feb 4. Epub 2021 Feb 4.

Division of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Germany.

Rationale & Objective: Research on pediatric kidney replacement therapy (KRT) has primarily focused on Europe and North America. In this study, we aimed to describe the mortality risk of children treated with maintenance peritoneal dialysis (MPD) in different parts of the world and characterize the associated demographic and macro-economic factors.

Study Design: Prospective cohort study.

Setting & Participants: We evaluated patients aged <19 years at inclusion into the International Pediatric Peritoneal Dialysis Network registry, who initiated MPD between 1996-2017.

Exposures: The primary exposure was region (Asia, Western Europe, Eastern Europe, Latin America, North America, and Oceania). Other demographic, clinical and macro-economic (four income groups based on Gross National Income) factors were studied as exposures.

Outcomes: All-cause MPD mortality.

Analytical Approach: Patients were followed for three years. Mortality rates in different regions and income groups were calculated. Cause-specific hazards models with random effects were fit to calculate the proportional change in variance for factors that could explain variation in mortality rates.

Results: A total of 2,956 patients with a median age of 7.8 years at the start of KRT were included. After three years, the overall probability of death was 5%, ranging from 2% in North America to 9% in Eastern Europe. Mortality rates were higher in low-income countries than in high-income countries. Income category explained 50.1% of the variance in mortality risk between regions. Other explanatory factors included peritoneal dialysis modality at start (22.5%) and body mass index (11.1%).

Limitations: The interpretation of interregional survival differences as found in this study may be hampered by selection bias.

Conclusion: This study shows that the overall three-year patient survival on pediatric MPD is high, and that country income is associated with patient survival.
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http://dx.doi.org/10.1053/j.ajkd.2020.11.031DOI Listing
February 2021

Health-related quality of life in children with immunoglobulin A nephropathy - results of a multicentre national study.

Arch Med Sci 2021 24;17(1):84-91. Epub 2020 Nov 24.

Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland.

Introduction: Immunoglobulin A nephropathy (IgAN) may lead to end stage renal disease and severely affect patient functioning and wellbeing. The aim of the study was to evaluate health-related quality of life (HRQoL) in children and adolescents with IgAN, and compare HRQoL in relation to the disease course, social status and psychological factors, such as expressing anger and perceived personal competence.

Material And Methods: The multicentre cross-sectional study included 51 patients ≥ 8 years from 7 paediatric nephrology centres in Poland. Psychometric analysis was performed using the Kidscreen-52 questionnaire to evaluate HRQoL, the Anger Expression Scale to evaluate the severity of anger and the Personal Competence Scale to measure general perception of personal competence.

Results: Mean age of patients was 14.54 ±3.69 years; duration since the diagnosis of IgAN was 4.98 ±3.9 years. Patients with IgAN rated their psychological wellbeing as significantly worse compared to healthy peers ( < 0.05). The presence of proteinuria was associated with significantly worse physical wellbeing (58.72 ±18.45 vs. 74.44 ±22.97; < 0.05). Current therapy (steroids/immunosuppressive drugs) had no effect on HRQoL in the study group. Perceived personal competence was rated high by 49% of children in the study group. Children with IgAN were characterized by lower intensity of expressed anger ( < 0.001) and significantly higher intensity of suppressed anger ( < 0.01) compared to reference ranges. Severity of expressed anger correlated positively with the parent relations and school environment dimensions of HRQoL.

Conclusions: We found lower HRQoL in regard to physical and psychological wellbeing in a group of Polish children with IgAN compared to healthy peers. HRQoL should be monitored in this patient group.
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http://dx.doi.org/10.5114/aoms.2020.100367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7811315PMC
November 2020

Ten-year trends in epidemiology and outcomes of pediatric kidney replacement therapy in Europe: data from the ESPN/ERA-EDTA Registry.

Pediatr Nephrol 2021 Jan 22. Epub 2021 Jan 22.

Department of Pediatrics, Bordeaux University Hospital, Bordeaux Population Health Research Center UMR 1219, University of Bordeaux, Bordeaux, France.

Background: For 10 consecutive years, the ESPN/ERA-EDTA Registry has included data on children with stage 5 chronic kidney disease (CKD 5) receiving kidney replacement therapy (KRT) in Europe. We examined trends in incidence and prevalence of KRT and patient survival.

Methods: We included all children aged <15 years starting KRT 2007-2016 in 22 European countries participating in the ESPN/ERA-EDTA Registry since 2007. General population statistics were derived from Eurostat. Incidence and prevalence were expressed per million age-related population (pmarp) and time trends studied with JoinPoint regression. We analyzed survival trends using Cox regression.

Results: Incidence of children commencing KRT <15 years remained stable over the study period, varying between 5.5 and 6.6 pmarp. Incidence by treatment modality was unchanged over time: 2.0 for hemodialysis (HD) and peritoneal dialysis (PD) and 1.0 for transplantation. Prevalence increased in all age categories and overall rose 2% annually from 26.4 pmarp in 2007 to 32.1 pmarp in 2016. Kidney transplantation prevalence increased 5.1% annually 2007-2009, followed by 1.5% increase/year until 2016. Prevalence of PD steadily increased 1.4% per year over the entire period, and HD prevalence started increasing 6.1% per year from 2011 onwards. Five-year unadjusted patient survival on KRT was around 94% and similar for those initiating KRT 2007-2009 or 2010-2012 (adjusted HR: 0.98, 95% CI:0.71-1.35).

Conclusions: We found a stable incidence and increasing prevalence of European children on KRT 2007-2016. Five-year patient survival was good and was unchanged over time. These data can inform patients and healthcare providers and aid health policy makers on future resource planning of pediatric KRT in Europe.
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http://dx.doi.org/10.1007/s00467-021-04928-wDOI Listing
January 2021

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.

Kidney Int 2020 Dec 10. Epub 2020 Dec 10.

Rare Diseases Centre, Medical University of Gdańsk, Gdańsk, Poland; Clinical Genetics Unit, Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gdańsk, Gdańsk, Poland. Electronic address:

A study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically confirmed X-linked Alport Syndrome. A single variant c.1871G>A p.Gly624Asp (G624D) in COL4A5 was predominant and accounted for 39% of X-linked Alport Syndrome in unrelated Polish families (44 of 113). To evaluate its origins, the genetic variation in a 2.79 Mb segment encompassing the COL4A5 locus on chromosome X was assessed. All G624D alleles were found on the same rare haplotype background, indicating a founder effect dating back to the 12-13th century. The phenotypic data of 131 children with X-linked Alport Syndrome and their 195 affected adult relatives revealed that the G624D variant was associated with a significantly milder clinical course in comparison to other pathogenic COL4A5 variants. Furthermore the clinical course of this genetically uniform cohort was milder than that observed in individuals with other COL4A5 missense mutations. In spite of the benign clinical manifestation throughout childhood and early adulthood, the G624D variant confers significant risk for both kidney failure and deafness in males, albeit 20-30 years later than that observed in individuals with other COL4A5 pathogenic variants (50% cumulative risk of starting dialysis at 54 years (95% confidence interval: 50-62) v. 26 years (95% confidence interval: 22-30)). Thus, males with G624D are candidates for existing and emerging therapies for Alport Syndrome.
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http://dx.doi.org/10.1016/j.kint.2020.10.040DOI Listing
December 2020

Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).

Sci Rep 2020 09 29;10(1):16025. Epub 2020 Sep 29.

Department of Pediatrics, Faculty of Medicine, University Hospital Cologne and University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.

To test the association between bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome and to identify risk factors for severe outcomes, a dataset comprising 504 patients from the international registry study ARegPKD was analyzed for characteristics and complications of patients with very early (≤ 3 months; VEBNE) and early (4-15 months; EBNE) bilateral nephrectomies. Patients with very early dialysis (VED, onset ≤ 3 months) without bilateral nephrectomies and patients with total kidney volumes (TKV) comparable to VEBNE infants served as additional control groups. We identified 19 children with VEBNE, 9 with EBNE, 12 with VED and 11 in the TKV control group. VEBNE patients suffered more frequently from severe neurological complications in comparison to all control patients. Very early bilateral nephrectomies and documentation of severe hypotensive episodes were independent risk factors for severe neurological complications. Bilateral nephrectomies within the first 3 months of life are associated with a risk of severe neurological complications later in life. Our data support a very cautious indication of very early bilateral nephrectomies in ARPKD, especially in patients with residual kidney function, and emphasize the importance of avoiding severe hypotensive episodes in this at-risk cohort.
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http://dx.doi.org/10.1038/s41598-020-71956-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525474PMC
September 2020

Is adiponectin in children with immunoglobulin A vasculitis a suitable biomarker of nephritis in the course of the disease?

Endokrynol Pol 2020 18;71(6):512-517. Epub 2020 Sep 18.

Department of Paediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland.

Introduction: Immunoglobulin A vasculitis (IgAV) is the most common form of vasculitis in children. Nephritis in the course of this disease (IgAVN) is observed in 30-50% of patients and might lead to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Finding a non-invasive biomarker to distinguish initially between patients with and without nephritis and to facilitate a therapeutic decision to reduce the risk of long-term renal impairment is currently the target of much research. The aim of this study was to evaluate the adiponectin concentration in children with IgAV and estimate whether it might be used as a marker of IgAVN.

Material And Methods: The study involved 29 IgAV children and 34 healthy controls. Eleven (38%) patients had renal involvement (IgAV-N) and 18 (62%) did not exhibit nephritis (IgAV-noN). The serum adiponectin level was estimated in children in an acute phase of IgAV and after 2-6 months during a follow-up visit. The relationship between the concentration of adiponectin and anthropometric measurements, epidemiological data and laboratory parameters were evaluated.

Results: The concentration of adiponectin in serum was significantly higher in children with acute phase of IgAV as compared to the control group (p < 0.001), and in patients without renal involvement in comparison with IgAV-N children (p < 0.049). In analysis of correlation we found a negative relationship between adiponectin level and serum creatinine concentration (r = -0.437, p = 0.02). The logistic regression evaluation demonstrated that a low adiponectin level increased the risk of nephritis in the course of IgAV.

Conclusions: Our study revealed that the serum adiponectin level increased markedly in patients with IgAV. We also documented that higher risk of nephritis in the course of the disease was associated with lower concentration of this hormone.
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http://dx.doi.org/10.5603/EP.a2020.0057DOI Listing
September 2020

Chemokine receptors on peripheral blood T lymphocytes in children on peritoneal dialysis.

Perit Dial Int 2021 Mar 1;41(2):194-201. Epub 2020 Sep 1.

Department of Pediatric Hematology and Oncology, 49613Faculty of Medical Sciences in Zabrze, SUM in Katowice, Poland.

Background: Immune cell dysfunction is listed among complications resulting from chronic kidney disease (CKD). It could be associated with T-cells, which play a role in the lymphocytic migration and infiltration. However, the data on chemokine receptors expression on T-cells in patients with CKD particularly treated with peritoneal dialysis (PD) are still limited.

Methods: The study aimed at multiparameter flow-cytometric analysis of the absolute numbers and percentage of T-cell subsets with surface chemokine receptors (CCR4, CCR5, CCR7, CXCR3, and CXCR4) or receptors' combinations in 47 children treated with PD.

Results: We found lower absolute numbers of total T lymphocytes, lymphocytes with surface CCR5, CXCR4CCR5, CXCR3CCR5 antigens and T-cells with CCR4, CCR4CD4, CXCR3, CXCR3CD4, and CD8 receptors. Lymphocytes T with CD4, CCR7, CD28CCR7, CXCR3CD8 antigens showed higher percentage in children on PD as compared to healthy children and opposite percentage values of CCR4, CCR4CD4, CXCR3 T lymphocytes were diminished. Mean fluorescent intensity for CCR7, CCR7CD45RO, CCR7CD28, CXCR4CD4, CCR5CD4, CCR4, CCR4CD4 T-cells was lower in the PD group than in healthy children. The analysis of correlation between T lymphocyte subpopulations with chemokine receptors and other parameters revealed positive correlation of CCR7 and CCR7CD28 T-cells and weekly creatinine clearance, negative correlation between the percentage of CD45ROCCR7 antigen positive T-cells and KT/V.

Summary: In conclusion, we could not confirm the phenomenon of earlier senescence of T-cells in children with CKD on PD treatment. This still requires further investigation. The higher percentage of T-cells with CCR7 surface receptor could be responsible for the increase of proliferation activity in this group of children.
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http://dx.doi.org/10.1177/0896860820951292DOI Listing
March 2021

Associations between renalase concentration and the occurrence of selected diseases.

Endokrynol Pol 2020 ;71(4):334-342

Department of Paediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland.

Renalase is a recently identified flavoprotein oxidase, secreted mainly by the kidneys, which takes part in the degradation of catecholamines. The catecholamine inactivating effect results in the modulation of the sympathetic system tension and, consequently, in a decrease of blood pressure, myocardial contractility, heart rate, and vascular tone. Besides its enzymatic capacity, renalase shows cytoprotective properties by activating mitogen-activated protein kinase (MAPK) pathway. Several single nucleotide polymorphisms (SNPs) of the renalase gene have been identified, of which the most widely studied in relation to the development of selected diseases are rs2296545, rs10887800, and rs2576178. Numerous publications prove the contribution of renalase to the occurrence of cardiovascular diseases, kidney diseases, ischaemic stroke, diabetes type 1 and 2, as well as female infertility and schizophrenia. Further extended research into the various mechanisms of renalase activity may result in the use of this oxidase or its analogues as a therapeutic and/or diagnostic tool.
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http://dx.doi.org/10.5603/EP.a2020.0044DOI Listing
January 2020

A "mysterious ghost kidney stone" in an 8-year-old boy with a solitary right kidney, obstructive megaureter, and ureterostomy: Answers.

Pediatr Nephrol 2021 Apr 21;36(4):865-868. Epub 2020 Jul 21.

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.

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http://dx.doi.org/10.1007/s00467-020-04709-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7910256PMC
April 2021

A "mysterious ghost kidney stone" in an 8-year-old boy with a solitary right kidney, obstructive megaureter and ureterostomy: Questions.

Pediatr Nephrol 2021 Apr 21;36(4):863-864. Epub 2020 Jul 21.

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.

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http://dx.doi.org/10.1007/s00467-020-04707-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7910233PMC
April 2021

Analysis of the association between kidney injury biomarkers concentration and nephritis in immunoglobulin A vasculitis: A pediatric cohort study.

Int J Rheum Dis 2020 Aug 5;23(9):1184-1193. Epub 2020 Jul 5.

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland.

Objective: The aim of this study was to investigate the clinical course, selected biochemical parameters and concentrations of renal injury biomarkers such as neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1) and liver-fatty acid binding protein (L-FABP) in patients with immunoglobulin A vasculitis (IgAV) to identify the markers associated with nephritis in the course of the disease (IgAVN).

Methods: The study involved 29 children with IgAV and 34 healthy controls. Eleven (38%) patients had renal involvement (IgAV-N) and 18 (62%) did not exhibit nephritis (IgAV-noN). Initial laboratory tests, determining the concentrations of NGAL, KIM-1 and L-FABP in serum and urine, were conducted on children from the study group in an acute phase of IgAV as well as after an average of 6 months, during a follow-up visit. The interconnection between renal involvement, anthropometric measurements, epidemiological data, laboratory parameters and levels of examined biomarkers have been thoroughly evaluated.

Results: The serum and urine levels of NGAL, KIM-1 and L-FABP were significantly higher in children with an acute phase of IgAV as compared to the control group (P < .001) and markedly lower during follow-up retesting in comparison with the values obtained at inclusion (P < .001). However, the concentration of none of the evaluated biomarkers correlated with nephrological indices. Among all examined parameters, only male subjects were associated with nephritis (P = .017).

Conclusions: We have established no evident association between the concentrations of NGAL, KIM-1 and L-FABP and nephritis in the course of IgAV in children. Additionally, we confirmed a significant male predominance in patients with nephritis.
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http://dx.doi.org/10.1111/1756-185X.13904DOI Listing
August 2020

IgA vasculitis with nephritis in children.

Adv Clin Exp Med 2020 Apr;29(4):513-519

Chair and Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Poland.

Immunoglobulin A vasculitis (IgAV), formerly known as Henoch-Schönlein purpura (HSP), is the most common form of systemic vasculitis in children. Although the first case of IgAV was described more than 200 years ago, its etiology still remains unclear. Nephrological symptoms are observed in 30-50% of children during the course of the disease, and in up to 91% of cases within 6 weeks of the onset of the first symptoms. Whereas other organ manifestations of IgAV are mostly benign and self-limiting, nephritis may lead to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Appropriate treatment commenced early enough can stop the disease progression. However, even in severe cases there are no evidence-based guidelines, which makes the therapeutic decisions more difficult. In this article, which is the most up-to-date overview regarding IgAV, we discuss the disease's pathogenesis, the clinical forms of renal involvement in the course of the disease, the risk factors for adverse prognosis and treatment options in accordance with current recommendations.
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http://dx.doi.org/10.17219/acem/112566DOI Listing
April 2020

A rare complication of systemic lupus erythematosus in a 9-year-old girl: Answers.

Pediatr Nephrol 2020 05 10;35(5):781-785. Epub 2019 Dec 10.

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Poland, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.

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http://dx.doi.org/10.1007/s00467-019-04412-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096361PMC
May 2020

A rare complication of systemic lupus erythematosus in a 9-year-old girl: Questions.

Pediatr Nephrol 2020 05 10;35(5):777-779. Epub 2019 Dec 10.

Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800, Zabrze, Poland.

Serious renal involvement in systemic diseases is common and generally constitutes a pivotal prognostic factor, making those pathology frequently seen in nephrology departments. Authors describe the case of a nine-year-old girl with lupus nephritis. After admission the patient's state deteriorated over a period of a few days, with an unremitting high-grade fever, significant weakness and drowsiness, generalized erythema, and decrease of the kidney function to eGFR nadir of 56 ml/min/1,73m . Treatment with pulsed methylprednisolone was started. After the first pulse the general state of the patient improved slightly, although laboratory tests showed an alarming evolution, with the exacerbation of anemia, leukopenia, neutropenia, increase of serum CRP concentration, extremely high D-dimer concentration and increase in activity of lactate dehydrogenase. The concentration of ferritin rose reaching the level of 540 μg/l, triglicerydes level was also high. Intravenous cyclophosphamide pulse therapy was added to the ongoing steroid treatment, and resulted in a radical patient improvement. Authors underline that it seems important to be aware of rare, non-renal, but potentially devastating complications of systemic diseases, like in this clinical case: the secondary hemophagocytic lymphohistiocytosis (HLH). When HLH complicates a rheumatic disease, it is also referred to as macrophage activation syndrome (MAS). Unfortunately treatment of MAS is still based on reports provided by individual centres and gathered own experiences so drawing up unambiguous diagnostic criteria will be valuable in future. The treatment should be individually tailored, and more specific evidence-based recommendations are needed.
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http://dx.doi.org/10.1007/s00467-019-04411-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096360PMC
May 2020

Evaluation of liver-type fatty acid binding protein (L-FABP) and interleukin 6 in children with renal cysts.

Adv Clin Exp Med 2019 Dec;28(12):1675-1682

Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, Poland.

Background: Renal cysts, according to their etiology, can be divided into genetic and acquired cysts. This is of great importance in patients with cystic kidney disease with a possible poor prognosis to identify markers of early kidney damage.

Objectives: The objective of this study was to evaluate the concentration of serum and urine liver-type fatty acid binding protein (L-FABP) and interleukin 6 (IL-6) in children with kidney cysts.

Material And Methods: The study was conducted on a group of 39 children with kidney cysts including 20 subjects with autosomal dominant polycystic kidney disease (ADPKD).

Results: Serum and urine L-FABP concentration in children with renal cysts was significantly higher compared to the controls, regardless of the underlying type of cystic degeneration, number of cysts and gender. Also, serum and urinary IL-6 concentration was significantly higher than in the control group. There was a significant negative correlation between serum L-FABP concentration and standard deviation score (SDS) for diastolic blood pressure (DBP). A significant negative correlation was found between serum IL-6 concentration and systolic blood pressure (SBP), DBP and mean arterial pressure (MAP) values as well as SDS for SBP and DBP. In addition, a significant positive correlation was found between urinary IL-6 concentration and estimated glomerular filtration rate (eGFR).

Conclusions: Higher concentration of L-FABP in serum and urine in children with kidney cysts indicates the early damage to the renal parenchyma, detectable before the onset of hypertension and other organ damage. Significantly higher serum and urinary IL-6 levels in children with cystic kidney disease compared to healthy children may suggest the role of this cytokine in chronic kidney disease development.
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http://dx.doi.org/10.17219/acem/110312DOI Listing
December 2019

Colostomy in children on chronic peritoneal dialysis.

Pediatr Nephrol 2020 01 30;35(1):119-126. Epub 2019 Oct 30.

Children's Mercy Kansas City, Kansas City, MO, USA.

Background: This study aimed to evaluate outcome of children on chronic peritoneal dialysis (PD) with a concurrent colostomy.

Methods: Patients were identified through the International Pediatric Peritoneal Dialysis Network (IPPN) registry. Matched controls were randomly selected from the registry. Data were collected through the IPPN database and a survey disseminated to all participating sites.

Results: Fifteen centers reported 20 children who received chronic PD with a co-existing colostomy. The most common cause of end stage kidney disease was congenital anomalies of the kidney and urinary tract (n = 16, 80%). The main reason for colostomy placement was anorectal malformation (n = 13, 65%). The median age at colostomy creation and PD catheter (PDC) insertion were 0.1 (IQR, 0-2.2) and 2.8 (IQR 0.2-18.8) months, respectively. The colostomies and PDCs were present together for a median 18 (IQR, 4.9-35.8) months. The median age at PDC placement in 46 controls was 3.4 (IQR, 0.2-7.4) months of age. Fourteen patients (70%) developed 39 episodes of peritonitis. The annualized peritonitis rate was significantly higher in the colostomy group (1.13 vs. 0.70 episodes per patient year; p = 0.02). Predominant causative microorganisms were Staphylococcus aureus (15%) and Pseudomonas aeruginosa (13%). There were 12 exit site infection (ESI) episodes reported exclusively in colostomy patients. Seven colostomy children (35%) died during their course of PD, in two cases due to peritonitis.

Conclusion: Although feasible in children with a colostomy, chronic PD is associated with an increased risk of peritonitis and mortality. Continued efforts to reduce infection risk for this complex patient population are essential.
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http://dx.doi.org/10.1007/s00467-019-04372-xDOI Listing
January 2020

Angiotensinogen and interleukin 18 in serum and urine of children with kidney cysts.

J Renin Angiotensin Aldosterone Syst 2019 Jul-Sep;20(3):1470320319862662

2 Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland.

Background: The most common disease associated with the presence of kidney cysts in the population is autosomal dominant polycystic kidney disease (ADPKD), which finally leads to end-stage renal disease.

Method: The study evaluated serum and urinary concentration of angiotensinogen (AGT) and interleukin 18 (IL-18) in a group of 39 children with renal cysts of different aetiology.

Results: Serum and urinary AGT concentration in children with renal cysts was higher compared to controls, regardless of the underlying background and gender. Serum IL-18 concentration was lower, in contrast, and the concentration of IL-18 in the urine did not differ between affected and healthy children. Negative correlation between urinary IL-18 concentration and systolic and mean arterial blood pressure was noted.

Conclusions: Higher AGT levels in serum and urine in children with renal cysts may indicate the activation of the renin-angiotensin-aldosterone system, including its intrarenal part, even before the onset of hypertension. Lower serum concentration of IL-18 in children with kidney cysts may indicate the loss of the protective role of this cytokine with the occurrence of hypertension.
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http://dx.doi.org/10.1177/1470320319862662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683321PMC
January 2020

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Am J Hum Genet 2019 05;104(5):994-1006

Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address:

Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage.
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http://dx.doi.org/10.1016/j.ajhg.2019.03.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506863PMC
May 2019

Vascular Access Choice, Complications, and Outcomes in Children on Maintenance Hemodialysis: Findings From the International Pediatric Hemodialysis Network (IPHN) Registry.

Am J Kidney Dis 2019 08 19;74(2):193-202. Epub 2019 Apr 19.

Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany. Electronic address:

Rationale & Objective: Arteriovenous fistulas (AVFs) have been recommended as the preferred vascular access for pediatric patients on maintenance hemodialysis (HD), but data comparing AVFs with other access types are scant. We studied vascular access choice, placement, complications, and outcomes in children.

Study Design: Prospective observational cohort study.

Setting & Participants: 552 children and adolescents from 27 countries on maintenance HD followed up prospectively by the International Pediatric HD Network (IPHN) Registry between 2012 and 2017.

Predictor: Type of vascular access: AVF, central venous catheter (CVC), or arteriovenous graft.

Outcome: Infectious and noninfectious vascular access complication rates, dialysis performance, biochemical and hematologic parameters, and clinical outcomes.

Analytical Approach: Univariate and multivariable linear mixed models, generalized linear mixed models, and proportional hazards models; cumulative incidence functions.

Results: During 314 cumulative patient-years, 628 CVCs, 225 AVFs, and 17 arteriovenous grafts were placed. One-third of the children with an AVF required a temporary CVC until fistula maturation. Vascular access choice was associated with age and expectations for early transplantation. There was a 3-fold higher living related transplantation rate and lower median time to transplantation of 14 (IQR, 6-23) versus 20 (IQR, 14-36) months with CVCs compared with AVFs. Higher blood flow rates and Kt/V were achieved with AVFs than with CVCs. Infectious complications were reported only with CVCs (1.3/1,000 catheter-days) and required vascular access replacement in 47%. CVC dysfunction rates were 2.5/1,000 catheter-days compared to 1.2/1,000 fistula-days. CVCs required 82% more revisions and almost 3-fold more vascular access replacements to a different site than AVFs (P<0.001).

Limitations: Clinical rather than population-based data.

Conclusions: CVCs are the predominant vascular access choice in children receiving HD within the IPHN. Age-related anatomical limitations and expected early living related transplantation were associated with CVC use. CVCs were associated with poorer dialysis efficacy, higher complication rates, and more frequent need for vascular access replacement. Such findings call for a re-evaluation of pediatric CVC use and practices.
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http://dx.doi.org/10.1053/j.ajkd.2019.02.014DOI Listing
August 2019

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 04;51(4):764

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of the article.
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http://dx.doi.org/10.1038/s41588-019-0376-0DOI Listing
April 2019

Treatment and long-term outcome in primary distal renal tubular acidosis.

Nephrol Dial Transplant 2019 06;34(6):981-991

Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

Background: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome.

Methods: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form.

Results: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (±1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate.

Conclusion: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.
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http://dx.doi.org/10.1093/ndt/gfy409DOI Listing
June 2019

Twenty years of growth hormone treatment in dialyzed children in Poland-Results of national multicenter study.

Adv Med Sci 2019 Mar 20;64(1):90-99. Epub 2018 Dec 20.

Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland.

Purpose: The aim of the study was to analyze the effect of recombinant human growth hormone (rhGH) therapy and to establish factors influencing growth rate in dialyzed children in Poland.

Methods: We retrospectively analyzed medical records of 81 children with end-stage renal disease (ESRD) on chronic dialysis treated with rhGH for ≥12 months between 1994 and 2014. The following data were recorded: cause of ESRD, dialysis modality, age at the dialysis and rhGH initiation [years]. In addition, growth [cm], [standard deviation score - SDS], body mass index [SDS], skeletal age [years], bone mineral density [SDS], hemoglobin, total protein, albumin, urea, creatinine, calcium, phosphorus, calcium phosphorus product, PTH, and alkaline phosphatase were measured at the baseline and after 12 months.

Results: Growth velocity in 81 children during one-year rhGH treatment was 7.33 ± 2.63 cm (ΔSDS 0.36 ± 0.43). Height SDS increased significantly (-3.31 ± 1.12 vs. -2.94 ± 1.15, p < 0.001). Children on peritoneal dialysis (PD) (n = 51) were younger than children on hemodialysis (HD) (n = 30) (9.92 ± 3.72 vs. 12.32 ± 3.11 years, p = 0.003). ΔSDS did not differ between PD and HD children (0.40 ± 0.33 vs. 0.30 ± 0.47, p = 0.311). Growth velocity (ΔSDS) correlated with age at dialysis initiation (r=-0.30, p = 0.009), age at rhGH treatment initiation (r=-0.35, p = 0.002), skeletal age (r=-0.36, p = 0.002), BMI SDS (r=-0.27, p = 0.019), and PTH (r=-0.27, p = 0.017). No correlation between growth velocity and other parameters was observed.

Conclusions: Treatment with rhGH in children with ESRD is effective and safe irrespective of dialysis modality. Early initiation of rhGH therapy is a crucial factor determining response to the treatment in children with ESRD.
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http://dx.doi.org/10.1016/j.advms.2018.12.001DOI Listing
March 2019

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 01 21;51(1):117-127. Epub 2018 Dec 21.

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.
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http://dx.doi.org/10.1038/s41588-018-0281-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668343PMC
January 2019

Interleukin 1-β, interleukin-1 receptor antagonist and vitamin D levels in children with atopic dermatitis.

Cent Eur J Immunol 2018 30;43(2):180-185. Epub 2018 Jun 30.

Clinical Department of Internal Diseases, Dermatology and Allergology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.

Introduction: Among the broad spectrum of cytokines, interleukin 1-β (IL-1β) has been implicated in induction and subsequent aggravation of skin lesions in atopic dermatitis (AD). A considerable body of evidence suggests that vitamin D status also influences the risk and/or severity of AD.

Material And Methods: Fifty-seven children suffering from mild to severe AD were enrolled in the study. The control group consisted of 33 matched healthy children. In all the children serum concentrations of IL-1β/IL-1F2 and the interleukin-1 receptor antagonist IL-Ra/1F3 were measured. Serum 25(OH)D concentration was obtained for 49 patients with AD and all healthy children.

Results: In children with AD 59.2% of children had insufficiency, 24.5% had deficiency and 16.3% had a sufficient serum 25(OH)D level. In the control group 26.5%, 52.9% and 20% of participants had insufficiency/deficiency/sufficiency of 25(OH)D, respectively. The severity of AD was positively correlated with total IgE level, percentage and absolute count of eosinophils and IL-1Ra. IL-1β correlated with IL-1Ra.

Conclusions: In children with AD the serum vitamin D level was lower than in healthy children. The correlation between severity of AD and IL-1Ra may prove that inflammasome-dependent IL-1β is involved in immunopathogenesis of the disease. Further studies are needed on a larger population of children to confirm the role of this cytokine in development of AD.
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http://dx.doi.org/10.5114/ceji.2018.77388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102616PMC
June 2018

Serum GDIgA1 levels in children with IgA nephropathy and Henoch-Schönlein nephritis.

Cent Eur J Immunol 2018 30;43(2):162-167. Epub 2018 Jun 30.

Department of Paediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland.

Introduction: GDIgA1 (galactose deficient IgA1) plays a significant role in the pathogenesis of IgA nephropathy (IgAN) and Henoch-Schönlein nephritis (HSN).

Aim Of The Study: The aim of this study was to assess the relevance of serum GDIgA1 level as a prognostic marker in children with IgAN and HSN.

Material And Methods: 41 children were included to the study group (15 IgAN, 26 HSN) and 22 to the control group. The following parameters were evaluated at baseline and endpoint: proteinuria, erythrocyturia, serum creatinine, serum IgA, GFR. A kidney biopsy was performed in all patients and evaluated according to the Oxford Classification (1 - present, 0 - absent: M - mesangial hypercellularity; E- endocapillary hypercellularity; S - segmental sclerosis/adhesion; T - tubular atrophy/interstitial fibrosis), and was calculated as the total score (sum of M, E, S, T). At the end of follow-up, the serum GDIgA1 concentration was measured.

Results: The serum GDIgA1 concentration in patients with IgAN and HSN was significantly higher than in the control group. No significant differences in mean proteinuria, erythrocyturia, GFR, MEST score, or GDIgA1 in serum, as well as the duration of follow-up between IgAN and HSN were observed. Baseline serum IgA concentration and time to kidney biopsy were significantly higher in children with IgAN than in children with HSN. We observed a positive correlation between GDIgA1 and IgA levels (r = 0.53), and GDIgA1 and serum creatinine levels (r = 0.5), as well as negative correlation between GDIgA1 and GFR (r = -0.37).

Conclusions: Serum GDIgA1 level may have a prognostic value in children with IgAN and HSN; however, to fully elucidate its clinical potential further studies performed in larger patient cohorts are required.
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http://dx.doi.org/10.5114/ceji.2018.77386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102617PMC
June 2018

The importance of fetuin-A in vascular calcification in children with chronic kidney disease.

Adv Clin Exp Med 2019 Apr;28(4):499-505

Department of Pediatric Nephrology, Faculty of Medicine, Wroclaw Medical University, Poland.

Background: The status of the cardiovascular (CV) system in children with chronic kidney disease (CKD) is significantly influenced by increasing stiffness of the arterial wall. This largely depends on the shortage of local and systemic inhibitors of soft tissue calcification.

Objectives: The aim of the study was to evaluate the role of fetuin-A in conjunction with other factors in the progressive hardening of the vascular wall in these children. We examined serum fetuin-A concentrations in relation to renal function, dialysis modality, and other clinical and biochemical markers promoting vascular calcification.

Material And Methods: Twenty children on peritoneal dialysis (PD), 20 on hemodialysis (HD), 36 treated conservatively, and 26 healthy subjects were enrolled into a cross-sectional study. In all children, fetuin-A and numerous clinical and biochemical parameters were measured.

Results: The fetuin-A concentration was significantly lower in children on hemodialysis (HD) vs children on peritoneal dialysis (PD), conservatively treated subjects, and the control group. In sick children, fetuinA concentration negatively correlated with dialysis vintage, PWV/ht, phosphate concentration, calcium phosphate product (CaxP), cumulative doses of calcium, and vitamin D3. In the whole study population, fetuin-A negatively correlated with blood pressure (BP), pulse wave velocity indexed to height (PWV/ht), intact parathyroid hormone (iPTH), high sensitivity C-reactive protein (hsCRP), and cholesterol concentrations.

Conclusions: In children with CKD, the decreased concentration of fetuin-A is related to other vascular calcification risk factors. Serum fetuin-A concentration may play a role in the identification of vascular disease risk factors in this population.
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http://dx.doi.org/10.17219/acem/82517DOI Listing
April 2019

L-FABP and IL-6 as markers of chronic kidney damage in children after hemolytic uremic syndrome.

Adv Clin Exp Med 2018 Jul;27(7):955-962

Department and Clinic of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland.

Background: Hemolytic-uremic syndrome (HUS) is a form of thrombotic microangiopathy, in the course of which some patients may develop chronic kidney disease (CKD). From a clinical point of view, it is important to search for markers that allow for early identification of patients at risk of a poor prognosis.

Objectives: The study evaluated the serum and urine levels of liver-type fatty acid binding protein (L-FABP) and interleukin 6 (IL-6).

Material And Methods: The study was conducted in 29 children with a history of HUS. The relationship between L-FABP and IL-6 and anthropometric measurements, the value of estimated glomerular filtration rate (eGFR) and albuminuria were additionally evaluated.

Results: In children after HUS, L-FABP and IL-6 concentration in both serum and urine was significantly higher in comparison to the control group. No differences in L-FABP and IL-6 concentration in serum and urine depending on the type of HUS and gender were noted. Correlation between L-FABP and IL-6 in serum and urine with eGFR and urine albumin-creatinine ratio (ACR) in the total group of patients after HUS was not detected. In the group of children after 6 month observation after HUS, a negative correlation of L-FABP concentration with eGFR was found.

Conclusions: The results indicate that the higher concentration of L-FABP in serum and urine of children with a history of HUS can be the result of protracted injury initiated during the acute phase of the disease. Lack of correlation of L-FABP concentration with the ACR may be associated with a short (less than 6 months) observation after acute renal failure or merely temporary renal tubular damage in the acute phase of the disease. In contrast, higher levels of IL-6 in serum and urine in children after HUS compared to healthy children and the negative correlation of L-FABP concentration and eGFR in children after 6 month observation after HUS may confirm their participation in CKD. Thus, L-FABP and IL-6 seem to be good biomarkers of chronic kidney damage in survivors of the acute phase of HUS.
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http://dx.doi.org/10.17219/acem/70567DOI Listing
July 2018

Evaluation of adipokines in children with cystic fibrosis.

Endokrynol Pol 2018 21;69(2):128-134. Epub 2018 Feb 21.

Chair and Department of Pediatrics, Medical University of Silesia, School of Medicine with the Division of Dentistry, Poland, ul.3 Maja, 41-800 Zabrze, Poland.

Introduction: Patients with CF present numerous pathological conditions such as malnutrition, depletion of fat-free mass, metabolic disturbances (abnormal glucose metabolism, increased insulin resistance, chronic energy deficit, local and chronic inflammation), which could affect or be associated with altered adipokines concentration Material and Methods: We aimed in this study to investigate the levels of selected adipokines such as resistin, apelin, adiponectin to demonstrate their application as possible markers of inflammation.

Results: Serum level of resistin was higher (p < 0.001) and adiponectin - lower (p=0.02) in CF children than in healthy children. There was no difference in serum apelin level between two examined groups. However, values of adiponectin/BMI and apelin/BMI ratios in CF did not differ significantly from controls. Higher values of resistin/BMI ratio in CF in comparison to controls were observed Serum resistin/adiponectin ratio was significantly higher in CF patients than in controls (p < 0.0001). Resistin/BMI ratio correlated negatively with FEV1 (R:-48,p < 0.043). Serum resistin/adiponectin ratio correlated negatively with FEV1/FVC (R:-49, p=0.04), Adipokines showed no correlation with BMI and BMI-SDS, glucose, total cholesterol, and LDL-, HDL-cholesterol, triglyceride serum levels. Spirometric parameters FEV1, FVC, VC correlated negatively with serum glucose levels (R: -0.55, p < 0.018; R: -0.65 p < 0.0025; R:-0.76, p < 0.0008 respectively). FEV1 and FVC correlated positively with BMI-SDS (R:0.58, p < 0.01; R:0.5, p < 0.036, respectively).

Conclusions: A significant increase in resistin concentration expressed also as resistin/BMI, and resistin/adiponectin ratios, observed in children with CF may suggests that this adipokine is involved in the inflammatory process underlying the disease and is related to worse spirometric parameters describing airways obstruction.
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http://dx.doi.org/10.5603/EP.a2018.0007DOI Listing
October 2018