Publications by authors named "Lidia Hyla-Klekot"

26 Publications

  • Page 1 of 1

Multiple variants of obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome - one clinical center case series and the systematic review of 734 cases.

J Pediatr Urol 2021 Jun 30. Epub 2021 Jun 30.

Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland.

Introduction: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare female urogenital tract malformation.

Study Objective: To present 10 patients with OHVIRA treated at the clinical center. To perform a systematic review of OHVIRA case series related to the prevalence of anatomical variants, surgical interventions and endometriosis, and to compare them with our case series.

Materials And Methods: Medical records from 10 OHVIRA patients treated between 2016 and 2020 were retrospectively reviewed. For the systematic review, PubMed and Web of Science were used to search for relevant studies. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were strictly followed.

Results: The most common anatomical variant includes left obstructed hemivagina (50.7%) with isolated hematocolpos or hydrocolpos (55.9%), uterus didelphys (82.9%), and ipsilateral renal agenesis (92.2%). Vaginal septectomy was the most common surgical approach (86.5%). Hemivaginectomy (2.2%), hemihysterectomy (4.2%), or total hysterectomy (0.7%) were also performed in several patients. Some subjects required salpingectomy (3.3%) or oophorectomy (1.8%). 7.5% of patients, mainly infants, did not require surgery due to the spontaneous resolution of hydrocolpos. Endometriosis was fortuitously found in 13.6% of the selected cases who underwent laparoscopy or laparotomy.

Discussion: The most common variant of OHVIRA includes isolated hematocolpos and a thick vaginal septum between adjacent hemivaginas. Endometriosis was present in approximately 14% of OHVIRA patients, but this number is probably underestimated. Routine laparoscopy is not required. However, all patients need further monitoring due to a higher risk of endometriosis. Based on the analyzed studies and our case series, vaginal septectomy is a sufficient surgical technique to relieve symptoms and prevent possible complications in most OHVIRA patients.
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http://dx.doi.org/10.1016/j.jpurol.2021.06.023DOI Listing
June 2021

Anorexia nervosa and juvenile lupus erythematosus in a 16-year-old female patient - common disease origin or random coincidence?

Cent Eur J Immunol 2021 11;46(1):127-132. Epub 2021 Mar 11.

Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland.

Adolescence is a period in which eating disorders and juvenile systemic lupus erythematosus are typically diagnosed. The coexistence of both disorders prompts the search for a common aetiology. In this paper, we present a case of a 16-year-old girl with life-threatening anorexia nervosa followed by clinical and immunological manifestations of systemic lupus erythematosus. The severity of the symptoms of anorexia nervosa resulted in significant delay in proper diagnosis of the concomitant systemic disease which had already been active. The administration of immunosuppressive treatment resulted in decreased lupus activity and resolution of the symptoms of anorexia nervosa.Being affected by one severe and chronic disease does not preclude the coexistence of another disease of different aetiology. However, such coexistence may suggest a common pathophysiology. Many authors have indicated a possible link between anorexia nervosa and many autoimmune disorders. Currently, modern genetic techniques have confirmed a significant correlation between these disorders. This issue needs further investigation and may be helpful in arriving at the final diagnosis in similar cases.
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http://dx.doi.org/10.5114/ceji.2021.104326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056349PMC
March 2021

Aggressive Angiomyxoma in an 11-Year-Old Boy - Diagnostic and Therapeutic Dilemmas: An Unusual Case Report and Review of the Literature.

Urology 2020 Oct 29;144:205-207. Epub 2020 May 29.

Department of Pediatric Surgery and Urology, School of Medicine in Katowice, Medical University of Silesia in Katowice, Katowice, Poland.

Aggressive angiomyxoma (AAM) is a rare tumor with a high risk of local recurrence. Scrotal AAM mimics common pediatric pathologies including hernia or hydrocele. We present 11-year-old boy who underwent macroscopically radical excision of right scrotal AAM. The patient has been already followed up for 29 months utilizing US every 6 months and MRI every 2 years. Residual scrotal mass has been visualized in MRI 3 months after surgery however no further growth was reported. Long term follow up with reliable local imaging is mandatory.
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http://dx.doi.org/10.1016/j.urology.2020.05.028DOI Listing
October 2020

Contribution of Bone Tissue to Regulation of Calcium and Phosphate Metabolism. Role of FGF23 and Klotho Protein.

Ortop Traumatol Rehabil 2020 Apr;22(2):69-76

Klinika Ortopedii z Pododdziałem Ortopedii Dziecięcej, Centralny Szpital Kliniczny Uniwersytetu Medycznego w Łodzi, Polska / Department of Orthopaedics with Paediatric Orthopaedics Ward, Central Teaching Hospital of the Medical University of Lodz, Poland.

Bone tissue actively contributes to the regulation of systemic homoeostasis, and particularly the maintenance of calcium-phosphate balance. The parathyroid hormone-vitamin D feedback axis is balanced by the recently discovered bone-FGF23-kidney hormonal axis. An active complex consisting of FGF23, a receptor and Klotho protein blocks phosphate reabsorption in the proximal tubules, increasing urine phosphate levels and decreasing blood phosphate levels. Mutations of the gene mediating FGF23 transcription lead to a number of diseases, examples including autosomal dominant hypophosphataemic rickets. Klotho protein is a cofactor for FGF23 displaying cardio-, vaso- and nephroprotective activity. It increases calcium reabsorption in the kidneys and inhibits phosphate reabsorption. It also exerts antioxidative and anti-insulin effects and inhibits tissue calcification and apoptosis. As an inhibitor of bone resorption, osteoprotegerin becomes an important contributor to bone remodelling, while RANK/RANKL signalling inhibition is used in the treatment of postmenopausal osteoporosis. Osteocalcin plays an important role in energy metabolism in the human body. Sclerostin exerts a strong catabolic effect on bone tissue. Newly identified contributors to the regulation of calcium and phosphate homoeostasis suggest that bone tissue plays a complex role in the systemic metabolism.
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http://dx.doi.org/10.5604/01.3001.0014.1153DOI Listing
April 2020

Evaluation of Selected Parameters of Calcium and Phosphate Metabolism in Children with Adolescent Idiopathic Scoliosis.

Ortop Traumatol Rehabil 2019 Aug;21(4):271-278

Klinika Ortopedii z Pododdziałem Ortopedii Dziecięcej, Centralny Szpital Kliniczny Uniwersytetu Medycznego w Łodzi, Polska / Department of Orthopaedics with Paediatric Orthopaedics Ward, Central Teaching Hospital of the Medical University of Lodz, Poland.

Background: The multifactor aetiology of adolescent idiopathic scoliosis is commonly acknowledged. Both multivariate analyses of large study groups and the search for causes of adolescent idiopathic scoliosis and its progression in individual patients indicate that the aetiopathogenesis of this disorder is remarkably complex. The discovery of novel bone turnover markers, such as Klotho protein and FGF-23, means that their role in this condition also has to be considered. The aim of this paper is to evaluate the FGF-23 and Klotho protein concentration profiles as new contributors to the regulation of calcium and phosphate metabolism in children with adolescent idiopathic scoliosis and compare them with the values seen in healthy children.

Material And Methods: The study assessed a total of 70 children, including 35 children treated at the postural defects clinic of the Health Care Facility in Oleśno following a diagnosis of adolescent idiopathic scoliosis and 35 healthy children who constituted a control group. The levels of classic bone turnover markers, such as calcium and phosphorus concentration, alkaline phosphatase, 25-OH-D, and parathyroid hormone (PTH) activity, and of newly discovered contributors to calcium and phosphate metabolism regulation, namely Klotho protein and FGF-23, were determined in both groups.

Results: There were statistically significant differences in the levels of basic parameters of calcium and phosphate metabolism between children with scoliosis and the control group, with scoliotic patients showing elevated calcium and 25-OH-D levels and reduced parathyroid hormone levels. Klotho protein levels in children with scoliosis were significantly lower than in the control group. Moreover, the scoliotic patients showed a marked trend towards higher FGF-23 levels as compared to the control group.

Conclusions: 1. Adolescent idiopathic scoliosis is characterised by multi-level abnormalities of calcium and phosphate metabolism. 2. The increased FGF-23 levels and reduced Klotho protein concentrations found in serum samples collected from children with ado-lescent idiopathic scoliosis may suggest that these hormones play a role in the aetiopathogenesis of the disorder.
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http://dx.doi.org/10.5604/01.3001.0013.5072DOI Listing
August 2019

Perinatal hospice care in the opinion of nurses and midwives.

Ginekol Pol 2019 ;90(12):702-706

Department of Pediatric Surgery and Urology; The Independent Public Clinical Hospital no. 6 of the Medical University of Silesia in Katowice, Poland.

Objectives: Perinatal medicine is a relatively new, dynamically developing branch of medicine. Its main purpose is taking care of a woman in the pre-conception period, pregnancy and delivery, as well as taking care of a newborn baby. The main aim of the study was to assess the state of knowledge and opinion on hospice perinatal care of professionally active nurses and midwives.

Material And Methods: An original and anonymous questionnaire containing 30 questions was used for the study. 572 nurses and midwives from the Silesian Voivodeship took part in the study. The obtained data were analyzed.

Results: Only 31.6% of respondents defined the level of their knowledge of pregnancy and neonatal care as high. 12.8% of respondents were able to indicate the definition of perinatal care and accurately determine its goals. The women participating in the study were in favor of enclosing the information about not attempting resuscitation (DNAR) in medical record of children with incurable disease diagnosed in fetal life (99.3%).

Conclusions: The study showed deficits in practical and theoretical knowledge of nurses and midwives in the area of hospice perinatal care. Lack of proper preparation is also one of the most frequently mentioned difficulties in taking care of a child and family with poor prognosis.
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http://dx.doi.org/10.5603/GP.2019.0120DOI Listing
July 2020

Multicenter analysis of the efficacy and safety of a non-standard immunosuppressive therapy with rituximab in children with steroid-resistant nephrotic syndrome.

Clin Exp Pharmacol Physiol 2019 Apr 13;46(4):313-321. Epub 2018 Dec 13.

Department of Paediatric Nephrology and Dialysis, University of Poznan, Poznan, Poland.

The aim of the study was a multicenter analysis of the efficacy and safety of a non-standard immunosuppressive therapy with rituximab (Rtx) in children with steroid-resistant nephrotic syndrome (SRNS) with particular emphasis on the possibility of permanent discontinuation or dose reduction of other immunosuppressive drugs such as glucocorticoids and cyclosporine A after 6 months of observation. The study group consisted of 30 children with idiopathic nephrotic syndrome, who were unresponsive to standard immunosuppressive treatment, and hospitalized in the years 2010-2017 in eight paediatric nephrology centres in Poland. The children were administered a single initial infusion of rituximab at the dose of 375 mg/m of the body surface area. Proteinuria, the daily supply of glucocorticoids, and cyclosporine were assessed at the moment of the start of the treatment and after 6 months since its commencement. Before Rtx therapy, complete remission was found in 13 patients (43%) and partial remission was found in 8 patients (26%). These numbers increased to 16 (53%) and 12 (40%), respectively. At the start of the treatment 23 patients (76.6%) were treated with cyclosporine A. After 6 months, this number decreased to 15 patients (35%). At the start of the treatment, 18 patients (60%) were treated with prednisone. After 6 months, this number decreased to 8 patients (44%). Children with SRNS may potentially benefit from Rtx treatment despite relative risk of side effects. The benefits may include reduction of proteinuria or reduction of other immunosuppressants.
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http://dx.doi.org/10.1111/1440-1681.13046DOI Listing
April 2019

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

PLoS One 2017 10;12(8):e0180926. Epub 2017 Aug 10.

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

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-phenotype associations in 34 patients from 28 families, the largest SMARCAL1-associated nephropathy cohort to date. In 11 patients the diagnosis was made unsuspectedly through SRNS gene panel testing. Renal disease first manifested at median age 4.5 yrs, with focal segmental glmerulosclerosis or minimal change nephropathy on biopsy and rapid progression to end-stage kidney disease (ESKD) at median age 8.7 yrs. Whereas patients diagnosed by phenotype more frequently developed severe extrarenal complications (cerebral ischemic events, septicemia) and were more likely to die before age 10 years than patients identified by SRNS-gene panel screening (88 vs. 40%), the subgroups did not differ with respect to age at proteinuria onset and progression to ESKD. Also, 10 of 11 children diagnosed unsuspectedly by Next Generation Sequencing were small at diagnosis and all showed progressive growth failure. Severe phenotypes were usually associated with biallelic truncating mutations and milder phenotypes with biallelic missense mutations. However, no genotype-phenotype correlation was observed for the renal disease course. In conclusion, while short stature is a reliable clue to SIOD in children with SRNS, other systemic features are highly variable. Our findings support routine SMARCAL1 testing also in non-syndromic SRNS.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0180926PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552097PMC
October 2017

The Usefulness of Determining Neutrophil Gelatinase-Associated Lipocalin Concentration Excreted in the Urine in the Evaluation of Cyclosporine A Nephrotoxicity in Children with Nephrotic Syndrome.

Dis Markers 2016 26;2016:6872149. Epub 2016 Dec 26.

Department of Pediatric Nephrology, Center for Pediatrics and Oncology, Chorzów, Poland.

The use of cyclosporine (CsA) in the treatment of nephrotic syndrome (NS) contributed to a significant reduction in the amount of corticosteroids used in therapy and its cumulative side effects. One of the major drawbacks of CsA therapy is its nephrotoxicity. Prolonged CsA treatment protocols require sensitive, easily available, and simple to measure biomarkers of nephrotoxicity. NGAL is an antibacterial peptide, excreted by cells of renal tubules in response to their toxic or inflammatory damage. The aim of this study was to assess the suitability of the NGAL concentration in the urine as a potential biomarker of the CsA nephrotoxicity. The study was performed on a group of 31 children with NS treated with CsA. The control group consisted of 23 children diagnosed with monosyptomatic enuresis. The relationship between NGAL excreted in urine and the time of CsA treatment, concentration of CsA in blood serum, and other biochemical parameters was assessed. The study showed a statistically significant positive correlation between urine NGAL concentration and serum triglycerides concentration and no correlation between C0 CsA concentration and other observed parameters of NS. The duration of treatment had a statistically significant influence on the NGAL to creatinine ratio. NGAL cannot be used alone as a simple CsA nephrotoxicity marker during NS therapy. Statistically significant correlation between NGAL urine concentration and the time of CsA therapy indicates potential benefits of using this biomarker in the monitoring of nephrotoxicity in case of prolonged CsA therapy.
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http://dx.doi.org/10.1155/2016/6872149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220415PMC
February 2017

Serum vaspin concentrations in girls with anorexia nervosa.

J Pediatr Endocrinol Metab 2016 Jun;29(6):681-6

Background: Vaspin (VASP) is a protein detected in pre- and mature adipocytes, the production and secretion of which may be conditioned by nutrition status. VASP may also play a role in the regulation of food intake. Since to date, there are no available studies on serum vaspin concentrations in patients with anorexia nervosa (AN), the aim of our study is to assess serum vaspin concentrations in girls with AN in comparison to healthy subjects and determine its relationship with body weight, body masss index (BMI) and insulin.

Methods: In this cross-sectional study vaspin serum concentrations were evaluated using a commercially available ELISA kit in 47 Polish girls hospitalized due to restrictive AN and 39 healthy controls (H).

Results: The mean serum concentration of VASP in girls with AN was significantly higher than in the H group. These differences were also noted after adjustment for body masss index-standard deviation score (BMI-SDS), the homeostatic model assessment-insulin resistance (HOMA-IR) index and insulin levels. There were no statistically significant correlations between the serum concentrations of VASP and body mass, BMI, BMI-SDS, insulin and HOMA-IR in the AN or healthy group.

Conclusions: Serum vaspin levels in lean subjects are regulated in different mechanisms than previously reported in obesity. It should be established if elevated serum vaspin levels in girls with AN may contribute to low food intake in these patients.
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http://dx.doi.org/10.1515/jpem-2015-0390DOI Listing
June 2016

Influence of Orthodontic Rapid Maxillary Expansion on Nocturnal Enuresis in Children.

Biomed Res Int 2015 16;2015:201039. Epub 2015 Aug 16.

Department and Clinic of Urology, Medical University of Silesia, 41-800 Zabrze, Poland.

Background: The etiology of nocturnal enuresis (NE) is multifactorial and has not been fully explained yet. New ways of treatment are constantly being investigated, including the rapid maxillary expansion (RME).

Methods: A total of 41 patients diagnosed with NE were divided into two experimental groups: A and B. Group A included 16 children who have been treated with RME. Group B comprised 25 children who have not undertaken orthodontic treatment. Children from both groups have been monitored in monthly intervals, during a 12-month period, towards the intensification of NE. The comparative analysis of both groups has been conducted after 3 years of observation.

Results: Statistical analysis has shown a 4.5 times increase of the probability of reduction of NE in the case of the treated group in comparison with the group of children who have not undergone orthodontic treatment. Unfortunately, the chance of obtaining total dryness diminished proportionally to the higher degree of intensification of enuresis at the beginning of the test.

Conclusion: RME can constitute an alternative method of NE treatment in children, irrespective of the occurrence of upper jaw narrowing.
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http://dx.doi.org/10.1155/2015/201039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553176PMC
June 2016

Dimethylarginines as risk markers of atherosclerosis and chronic kidney disease in children with nephrotic syndrome.

Adv Clin Exp Med 2015 Mar-Apr;24(2):307-14

Department of Urology, Medical University of Silesia, Zabrze, Poland.

Background: Nephrotic syndrome in children is commonly associated with dyslipidemia, which is considered a risk factor for endothelial dysfunction and atherosclerosis. Recently new markers of endothelial dysfunction, such as asymmetric dimethylarginine (ADMA), have gained importance. Another L-arginine derivative--symmetric dimethylarginine (SDMA)--may reflect the glomerular filtration rate (GFR).

Objectives: The main aim of this study was to assess ADMA as a marker of atherosclerosis. Secondly, SDMA was examined for GFR assessment.

Material And Methods: The study involved 32 children with nephrotic syndrome. Several parameters were examined in the remission and relapse phases of nephrotic syndrome, including ADMA, SDMA, cholesterol, triglycerides and GFR.

Results: In the relapse phase there was a negative correlation between ADMA and lipids (cholesterol and triglycerides). In both phases SDMA was negatively correlated with GFR.

Conclusions: The role of ADMA as a marker for endothelial dysfunction is not significant. SDMA may be utilized to monitor GFR in children with nephrotic syndrome.
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http://dx.doi.org/10.17219/acem/40465DOI Listing
August 2015

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

Clin J Am Soc Nephrol 2015 Apr 29;10(4):592-600. Epub 2015 Jan 29.

Due to the number of contributing authors, the affiliations are provided in the Supplemental Material.

Background And Objectives: Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome.

Design, Setting, Participants, & Measurements: Since August of 2009, clinical, biochemical, genetic, and histopathologic information was collected both retrospectively and prospectively from 1655 patients with childhood-onset steroid-resistant nephrotic syndrome, congenital nephrotic syndrome, or persistent subnephrotic proteinuria of likely genetic origin at 67 centers in 21 countries through an online portal.

Results: Steroid-resistant nephrotic syndrome manifested in the first 5 years of life in 64% of the patients. Congenital nephrotic syndrome accounted for 6% of all patients. Extrarenal abnormalities were reported in 17% of patients. The most common histopathologic diagnoses were FSGS (56%), minimal change nephropathy (21%), and mesangioproliferative GN (12%). Mutation screening was performed in 1174 patients, and a genetic disease cause was identified in 23.6% of the screened patients. Among 14 genes with reported mutations, abnormalities in NPHS2 (n=138), WT1 (n=48), and NPHS1 (n=41) were most commonly identified. The proportion of patients with a genetic disease cause decreased with increasing manifestation age: from 66% in congenital nephrotic syndrome to 15%-16% in schoolchildren and adolescents. Among various intensified immunosuppressive therapy protocols, calcineurin inhibitors and rituximab yielded consistently high response rates, with 40%-45% of patients achieving complete remission. Confirmation of a genetic diagnosis but not the histopathologic disease type was strongly predictive of intensified immunosuppressive therapy responsiveness. Post-transplant disease recurrence was noted in 25.8% of patients without compared with 4.5% (n=4) of patients with a genetic diagnosis.

Conclusions: The PodoNet cohort may serve as a source of reference for future clinical and genetic research in this rare but significant kidney disease.
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http://dx.doi.org/10.2215/CJN.06260614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386250PMC
April 2015

Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.

Nephrol Dial Transplant 2015 Apr 3;30(4):636-44. Epub 2014 Dec 3.

Department of General Pediatrics, Pediatric Nephrology, University Children's Hospital, Münster, Germany.

Background: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder exhibiting a high risk for progressive chronic kidney disease (CKD).

Methods: This is a retrospective multicentre study of 25 paediatric cases with FHHNC in Poland. Median age at diagnosis was 4 years and median follow-up time was 4.8 years.

Results: All cases of FHHNC carried recessive mutations in CLDN16. The founder mutation in CLDN16, Leu151Phe, was the most frequent cause of FHHNC in Polish patients, with 13 (52%) cases being homozygous and 5 (20%) carrying Leu151Phe allele in compound heterozygosity. All cases showed nephrocalcinosis, increased urinary fractional excretion of magnesium and hypercalciuria. Other disease features included hypomagnesaemia (76%), hyperparathyroidism (76%), hyperuricaemia (56%) and hypocitraturia (60%). Treatment with thiazides effectively reduced hypercalciuria in most cases. During follow-up, renal function declined in 60% of patients; 12% of patients reached CKD stage 3 or 4 and one patient developed end-stage renal failure.

Conclusions: We report one of the largest cohorts of FHHNC cases caused by CLDN16 mutations. A missense variant of CLDN16, Leu151Phe, is the most common mutation responsible for FHHNC in Poland. Additionally, we found that normomagnesaemia does not exclude FHHNC and the calculation of fractional excretion of Mg can be diagnostic in the setting of normomagnesaemia. We also demonstrate the efficacy of a treatment with thiazides in terms of hypercalciuria in the majority of patients.
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http://dx.doi.org/10.1093/ndt/gfu374DOI Listing
April 2015

Association between polymorphisms in the TSHR gene and Graves' orbitopathy.

PLoS One 2014 25;9(7):e102653. Epub 2014 Jul 25.

Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Department of Nuclear Medicine and Endocrine Oncology, Gliwice, Poland.

Background: Graves' orbitopathy (GO) as well as Graves' disease (GD) hyperthyroidism originate from an autoimmune reaction against the common auto-antigen, thyroid-stimulating hormone receptor (TSHR). GO phenotype is associated with environmental risk factors, mainly nicotinism, as well as genetic risk factors which initiate an immunologic reaction. In some patients GO is observed before diagnosis of GD hyperthyroidism, while it can also be observed far after diagnosis. The intensity of GO symptoms varies greatly in these patients. Thus, the pathogenesis of GD and GO may correlate with different genetic backgrounds, which has been confirmed by studies of correlations between GO and polymorphisms in cytokines involved in orbit inflammation. The aim of our analysis was to assess genetic predisposition to GO in young patients (age of diagnosis ≤30 years of age), for whom environmental effects had less time to influence outcomes than in adults.

Methods: 768 GD patients were included in the study. 359 of them had clinically evident orbitopathy (NOSPECS ≥2). Patients were stratified by age at diagnosis. Association analyses were performed for genes with a known influence on development of GD - TSHR, HLA-DRB1, cytotoxic T-lymphocyte antigen 4 (CTLA4) and lymphoid protein tyrosine phosphatase (PTPN22).

Results: The rs179247 TSHR polymorphism was associated with GO in young patients only. In young GO-free patients, allele A was statistically more frequent and homozygous carriers had a considerable lower risk of disease incidence than patients with AG or GG genotypes. Those differences were not found in either elderly patients or the group analyzed as a whole.

Conclusions: Allele A of the rs179247 polymorphism in the TSHR gene is associated with lower risk of GO in young GD patients.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0102653PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111286PMC
April 2015

Primary aldosteronism: a new insight into pathogenesis, diagnosis, and treatment in hypertensive patients.

Pol Arch Med Wewn 2013 9;123(10):547-51. Epub 2013 Oct 9.

Primary aldosteronism (PA) seems to be a pathogenetically heterogenous disease. It is suggested that approximately 30% of all hypertensive patients are affected by this disease. Autonomous hypersecretion of aldosterone, which is observed in this patient group, may be caused by an adrenal adenoma (aldosteronoma), hyperplasia of the zona glomerulosa, mutation of the KCNJ5 potassium channel, or other rare pathogenetic factors. Contrary to what was believed before, PA may be the cause of resistant hypertension rather than mild hypertension, while 70% of the patients have normal serum potassium levels rather than hypokalemia (previously believed to be a classical PA symptom). Hypertensive patients with normal or elevated aldosteronemia (A), suppressed plasma renin activity (PRA) and an elevated A/PRA ratio should undergo further diagnostic work‑up for PA. PA is suspected to be the continuum of low‑renin hypertension. First‑choice therapy of PA should be based on long‑term administration of low‑dose mineralocorticoid receptor antagonists (spironolactone, eplerenone) and, in the nearest future, probably also aldosterone synthase antagonists such as CLI699, regardless of the morphological type of PA. It is still unknown whether pharmacological treatment will totally replace surgical treatment in some types of PA. Long‑term administration of low‑dose aldosterone antagonists is an effective and often underscored antihypertensive treatment, which rarely causes serious hyperkalemia if the kidney function is not impaired.
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September 2015

[Variety of thrombotic thrombocytopenic purpura clinical course in Polish family members with ADAMTS 13 gene mutation].

Pol Merkur Lekarski 2013 Mar;34(201):161-4

Centrum of Paediatry and Oncology, Chorzow, Poland.

The congenital form of thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrom) is a result of genetically conditioned dysfunction of protease ADAMTS 13 enzyme which is responsible for von Wiellebrand factor multimer disintegration. The disease is inherited autosomally and recessively. The decrease of ADAMTS 13 activity results in intravascular clotting process activation with rapid lowering of platelet count, haemolytic anaemia, and occurence of schistocytes. Clinically, the disease is characterized by a range of symptoms such as severe jaundice in neonatal period, embolicthrombotic incidents of nervous system and progressive dysfunction of kidneys and other organs. Delaying diagnosis and hence administering of freshly frozen plasma leads to death. Molecular diagnosis allows for identification of genetical profile of the patient, and showing lowered enzyme activity is a basis for regular prophylactic plasma administration which is the protease donor. In our study we present members of a Polish family identified with ADAMTS 13 mutation. 52 old male with heterozygotic mutation of exon 29 (4143_4144insA) and in exon 19 (c2281G>A; Gly761Ser), experienced a few episodes of ischaemic stroke with ongoing neurological deficiency and developed chronic kidney disease. His 16-year old daughter with double homozygotic mutation in exon 29 (4143_4144insA) after severe episode of TTP at the age of 4 has been receiving plasma every 2 weeks for 12 years, which prevented her from other disorders. Target treatment introduced to clinical practice by means of ADAMTS 13 obtained by genetic recombination technology raises hopes.
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March 2013

Evaluation of certain constituents of antioxidant defense in youth treated in the past for steroid-sensitive idiopathic nephrotic syndrome.

Pediatr Nephrol 2009 Nov 28;24(11):2187-92. Epub 2009 Jul 28.

Department of Pediatrics in Bytom, Medical University of Silesia, Katowice, Poland.

Disorders of lipid metabolism and antioxidant defense capacity reported during idiopathic nephrotic syndrome (INS) exacerbations are known. The aim of this study was to evaluate constituents of antioxidant defense [total antioxidant potential: ferric-reducing antioxidant power (FRAP), paraoxonase-1 (PON-1), tocopherols, ascorbic acid] in patients formerly treated for INS. The studied group consisted of 30 patients (20 males and 10 females) treated 4-15 years ago for INS. The control group consisted of 30 healthy teenagers. There were no statistically significant differences in PON-1 activity (156.4 +/- 97.1 vs 137.7 +/- 80.2 U/l), alpha-tocopherol levels (23.9 +/- 7.3 vs 22.4 +/- 3.2 micromol/l) and sum of beta- and gamma-tocopherols (2.1 +/- 1.0 vs 2.3 +/- 0.6 micromol/l), and in FRAP (484.9 +/- 87.2 vs 452.8 +/- 76.9 micromol/l) between groups. In the study group, a significantly lower concentration of ascorbic acid (53.0 +/- 20.8 vs 69.4 +/- 16 micromol/l; p < 0.002), decreased values of alpha-tocopherol/cholesterol (4.9 +/- 0.7 vs 5.5 +/- 1.2; p = 0.03), and total tocopherol/cholesterol (5.3 +/- 0.8 vs 6.1 +/- 1.4; p = 0.016) ratios were observed. A positive correlation between tocopherol/total cholesterol (TCh) (r = 0.41; p < 0.05) and alpha-tocopherol/TCh (r = 0.50; p < 0.001) ratios and INS relapse frequency was reported. The relationship between the study parameters and group of variables (relapse frequency, duration of the last remission, age, gender) was tested using the multiple linear regression analysis. The results of this study suggest that the nonenzymatic antioxidant defense in young persons formerly treated for INS is weaker than in their healthy counterparts.
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November 2009

[No effect of rituximab in pediatric case of severe nephrotic syndrome and focal segmental glomeruloslerosis accompanied by renal insufficiency].

Pol Merkur Lekarski 2008 Dec;25(150):519-22

Chorzowskie Centrum Pediatrii i Onkologii, Oddział Nefrologii Dzieciecej.

Resistance to steroids and immunosuppression in pediatric nephrotic syndrome may be related to focal segmental glomeruloslerosis (FSGS). Rituximab, monoclonal anti-B-CD20-cell antibody is currently regarded as novel effective drug in selected cases. We describe the case of 8-years-old male pediatric patient, resistant to combined immunosuppression and presenting renal insufficiency (GFR 32.8 ml/min/1.73 m2). Patient was given overall 5 doses of rituximab [375 mg/m2/dose]. Nevertheless significant decrease of proteinuria, the further progress of renal disease was unaffected and patient developed end-stage renal failure. The efficacy of rituximab in nephrotic syndrome must be verified in controlled trials. Late onset of therapy in course of renal insufficiency might be the one of the reasons of treatment failure in our case.
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December 2008

Drug-induced abnormalities of potassium metabolism.

Pol Arch Med Wewn 2008 Jul-Aug;118(7-8):431-4

Department of Nephrology, Endocrinology and Metabolic Diseases, Silesian Medical University, Katowice, Poland.

Pharmacotherapy has progressed rapidly over the last 20 years with the result that general practioners more and more often use drugs which may influence potassium metabolism at the kidney or gastrointestinal level, or the transmembrane transport of potassium at the cellular level. Potassium abnormalities may result in life-theatening clinical conditions. Hypokalemia is most frequently caused by renal loss of this electrolyte (thiazide, thiazide-like and loop diuretics, glucocorticoids) and the gastrointestinal tract (laxatives, diarrhea, vomiting, external fistula), and may be the result of an increased intracellular potassium influx induced by sympathicomimetics used mostly by patients with asthma, or by insulin overdosage in diabetic subjects. The leading symptoms of hypokalemia are skeletal and smooth muscle weakness and cardiac arrhythmias. Hyperkalemia may be caused by acute or end-stage renal failure, impaired tubular excretion of potassium (blockers of the renin-angiotensin-aldosterone system, nonsteroidal anti-inflammatory drugs, cyclosporine, antifungal drugs, potassium sparing diuretics), acidemia, and severe cellular injury (tumor lysis syndrome). Hyperkalemia may be the cause of severe injury of both skeletal and smooth muscle cells. The specific treatment counteracting hyperkalemia is a bolus injection of calcium salts and, when necessary, hemodialysis.
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October 2008

[The role of some selected risk factors in the development of the nephrotoxicity of immunosuppressive medications used after the heart transplantation in children and young adults].

Przegl Lek 2006 ;63 Suppl 3:40-3

Chorzowskie Centrum Pediatrii i Onkologii.

The goal of this research was the assessment of non-genetic and genetic risk factors of renal lesions in children after heart transplants. The research was carried out in 22 pediatric heart transplant recipients who have had a long-term treatment with calcineurin inhibitors. Renal function was assessed directly after the transplantation and then in 3 months intervals with the monitoring of calcineurin inhibitors concentration in the plasma. A significant renal lesion has been confirmed, which was a time-function in all examined patients, although its severity varied. Acute renal insufficiency, transplant rejection and ATG usage in the peri-transplant and the post-transplant periods have not proven to influence the complications mentioned above. The relationship between "high TGFbeta production genotype" and the intensity of nephrotoxicity of calcineurin inhibitors has been confirmed.
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December 2006

[Necrotizing glomerulonephritis in decursu vasculitis after vaccination against influenza].

Pol Merkur Lekarski 2005 Jul;19(109):75-7

Chorzowskie Centrum Pediatrii i Onkologii.

Vaccinations against influenza are common, acceptable way of prevention of influenza, which develops as epidemic on huge areas of Europe. We described 17 years old girl, who has developed vasculitis after vaccination against influenza vaccine Vaxigrip produced by Aventis Pasteur. Aggressive immunosuppressive treatments caused regression majority of clinical symptoms and normalization of renal function tests.
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July 2005

[Genetic conditions of synthesis of selected cytokines in children with nephrotic syndrome].

Wiad Lek 2005 ;58 Suppl 1:45-9

Z Chorzowskiego Centrum Pediatrii i Onkologii.

In this study a genetic determination of some cytokines synthesis is presented in group of 23 children with various kinds of nephrotic syndrome (NS). The gene polymorphisms of TNF-alpha, TGF-beta, IL-6, IL-10, INF-gamma were identified using PCR-SSP method combined with the measurement of levels of TNF-alpha, TGF-beta, IL-6, IL-10, INF-gamma synthesis. The differences in occurring frequency of high, middle and low genotypes TNF-alpha, TGF-beta and IL-6 synthesis between children with NS and control group were revealed. Significantly more frequently high TGF-beta and high IL-6 synthesis genotype in NS group were found. Because of high variability of cytokine level in blood in duration of NS and methodic difficulties of their measurement, identification of cytokines genes polymorphisms seems to be a method that can objectively describe the cytokine participation in NS pathophysiology.
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October 2005
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