Publications by authors named "Zeynep Birsin Özçakar"

34 Publications

Chronic non-bacterial osteomyelitis: another disease associated with MEFV gene mutations.

Clin Exp Rheumatol 2020 Sep-Oct;38 Suppl 127(5):112-117. Epub 2020 Nov 25.

Department of Paediatric Rheumatology, Ankara University Faculty of Medicine, Ankara, Turkey.

Objectives: Chronic non-bacterial osteomyelitis (CNO) is an autoinflammatory bone disease of unknown aetiology. The relationship between CNO and familial Mediterranean fever (FMF) is not clearly documented so far. This cross-sectional study aims to evaluate the clinical and laboratory characteristics of a cohort of CNO patients within the context of its relationship with FMF and MEFV gene mutations.

Methods: Demographic and clinical data were extracted from electronic medical records of patients with CNO. The MEFV gene analysis was performed for all patients.

Results: A total number of 18 patients with CNO with a median follow-up of 36.50 (13.00-84.00) months were included in the study. Five patients (27.8%) were found to have at least one exon 10 mutations (four with M694V and one with M680I). Four of them (22.2%) had homozygous or compound heterozygous mutations of the MEFV gene. Two patients had a previous diagnosis of FMF and developed CNO while FMF was under control. Patients with MEFV mutations had an earlier onset of CNO, higher acute phase reactants, lower haemoglobin concentrations, and a higher number of bone lesions at disease onset with a persistent course of disease more frequently.

Conclusions: Our results demonstrated an increased frequency of MEFV gene mutations in CNO and a more severe disease phenotype of CNO in patients with MEFV gene mutations. Physicians practicing in regions where FMF is prevalent should be aware of this relationship and ask about the symptoms of FMF in detail in patients with CNO. Moreover, FMF should be included in CNO-associated conditions.
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December 2020

Transplantation in pediatric aHUS within the era of eculizumab therapy.

Pediatr Transplant 2020 Nov 20:e13914. Epub 2020 Nov 20.

Department of Pediatrics, Division of Pediatric Nephrology, Gazi University School of Medicine, Ankara, Turkey.

aHUS is caused by the over-activation and dysregulation of the alternative complement pathway. Data regarding outcomes of pediatric aHUS patients after kidney transplantation are still very scarce. Accordingly, the aim of this study was to describe the clinical findings and outcomes of pediatric aHUS patients after renal transplantation. This is a retrospective, multicenter study including 12 patients from the national registry system. Among the 12 patients, eight had received prophylactic eculizumab and none of those patients (except one) had experienced aHUS recurrence during a median follow-up period of 58.5 (min-max, 4-94) months. Although eculizumab had been started on the day before transplantation in one of them, aHUS recurrence occurred during the transplantation procedure. Eculizumab had been stopped in only one patient who had no complement gene mutation after 35 months of therapy, and recurrence had not been observed during the 19 months of follow-up. In three patients, maintenance doses had been spaced out without any recurrence. One additional patient with anti-CFH antibody received only two doses of eculizumab for transplantation and had been followed for 46 months without aHUS recurrence. The remaining three patients had not received anti-C5 therapy and none of those patients experienced aHUS recurrence during a median follow-up period of 21 (min-max, 9-42) months. Prophylactic eculizumab is a safe and effective treatment for the prevention of aHUS recurrence. Eculizumab interval prolongation, discontinuation, and transplantation without eculizumab prophylaxis can be tried in selected patients with close follow-up.
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http://dx.doi.org/10.1111/petr.13914DOI Listing
November 2020

Multiple intra-cardiac masses: A life-threatening complication of Behçet's disease.

Echocardiography 2020 07 17;37(7):1077-1079. Epub 2020 Jun 17.

Department of Pediatric Cardiology, School of Medicine, Ankara University, Ankara, Turkey.

The incidence of multiple intra-cardiac masses is rare, and the differential diagnosis may be challenging sometimes. The most common etiologies of multiple intra-cardiac masses are thrombus, vegetation, and tumors. Intra-cardiac thrombus is more common in patients with central catheters, with a wall-motion abnormality and global hypokinesis. Certain autoimmune disorders may favor the development of intra-cardiac thrombus, and very rarely, multiple thrombi may be seen. Here, a patient with multiple intra-cardiac masses in the right ventricle and diagnosed with Behçet's disease is presented.
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http://dx.doi.org/10.1111/echo.14771DOI Listing
July 2020

Renal Biopsy Prognostic Findings in Children With Atypical Hemolytic Uremic Syndrome.

Pediatr Dev Pathol 2020 Sep-Oct;23(5):362-371. Epub 2020 May 14.

Department of Pediatric Nephrology, Gazi University School of Medicine, Ankara, Turkey.

Background: The aim of this study was to investigate the histopathological findings in kidney biopsies in children with atypical hemolytic uremic syndrome (aHUS) and to determine whether specific pathological findings in aHUS have a prognostic value.

Methods: Renal biopsy specimens of 29 patients who were recorded in the national Turkish aHUS registry database were available for review. Histopathological findings were compared with the clinical and laboratory features at the presentation and the final outcome.

Results: The mean age at presentation and follow-up period was 4.9 ± 3.9 and 3.9 ± 3.0 years, respectively. The median time interval from the first symptom to biopsy was 10 days. Vascular thrombosis and interstitial fibrosis were significantly related to chronic kidney disease (CKD) requiring dialysis or kidney transplantation during follow-up (5.6-fold, for both). Glomerular necrosis, cortical necrosis, and glomerular sclerosis were markedly associated with CKD without dialysis (6.2-fold, 13.3-fold, and 8.8-fold, respectively). However, presence of endothelial swelling, subendothelial widening, and fragmented erythrocytes was found to be correlated with a favorable final outcome.

Conclusions: Presence of vascular thrombosis, cortical necrosis, and glomerular sclerosis in histopathological evaluation correlated with developing CKD. Chronic changes in the interstitial compartment were also related to poor prognosis, a finding that has been shown for the first time in pediatric aHUS cases.
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http://dx.doi.org/10.1177/1093526620925947DOI Listing
May 2020

COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.

Pediatr Nephrol 2020 10 11;35(10):1941-1952. Epub 2020 May 11.

Division of Pediatric Nephrology, Faculty of Medicine, Hacettepe University, 06230, Ankara, Turkey.

Background: Alport syndrome (AS) is an inherited glomerular disease caused by mutations in COL4A3, COL4A4, or COL4A5. Associations between clinical manifestations and genotype are not yet well defined. Our study aimed to define clinical and genetic characteristics, establish genotype-phenotype correlations, and determine prognosis of AS in children.

Methods: A total of 87 children with AS from 10 pediatric nephrology centers, whom had genetic analyses performed at the Hacettepe University Nephrogenetics Laboratory between February 2017 and February 2019, were included. Data regarding demographics, family history, clinical and laboratory characteristics, histopathological and genetic test results, treatments, and yearly follow-up results were retrospectively analyzed.

Results: Of 87 patients, 16% presented with nephrotic syndrome. In patients with nephrotic syndrome, kidney biopsy findings showed focal segmental glomerulosclerosis (FSGS) in 79%, and COL4A3 mutations were the leading genetic abnormality (50%). Twenty-four percent of all patients progressed to chronic kidney disease (CKD). The rate of progression to CKD and the decline in the glomerular filtration rate of the patients with COL4A3 mutation were higher than other mutation groups (p < 0.001 and p = 0.04, respectively). In kidney survival analysis, nephrotic syndrome presentation, histopathology of FSGS, COL4A3 mutations, and autosomal recessive inheritance were found as independent risk factors for earlier progression to CKD. Cyclosporin A treatment did not improve kidney survival.

Conclusions: We emphasize that genetic testing is important for patients suspected as having AS. Furthermore, COL4A mutations should be considered in patients with FSGS and steroid-resistant nephrotic syndrome. This approach will shed light on the prognosis of patients and help with definitive diagnosis, preventing unnecessary and potentially harmful medications. Graphical abstract.
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http://dx.doi.org/10.1007/s00467-020-04574-8DOI Listing
October 2020

The changing resistance patterns of bacterial uropathogens in children.

Pediatr Int 2020 Sep;62(9):1058-1063

Departments of Division of Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Background: Increased antimicrobial resistance is a problem in managing urinary tract infections (UTI). With this study we assessed the resistance patterns of urinary isolates in children with UTI between January 2017 and January 2018.

Methods: A retrospective cohort study was conducted. Among 5,443 isolates, a total of 776 UTI episodes in 698 patients were included. Patients' gender, age, voiding dysfunction, UTI history, prophylaxis status, and presence of vesicoureteral reflux were noted. Patients were divided into three age groups: group 1 for ages ≤12 months; group 2 for ages 13-60 months; and group 3 for ages >60 months. The susceptibilities of etiologic agents to different antimicrobials were explored.

Results: Median age was 54 months (range 1 month-21 years); male to female ratio was 1:5. The most common causative agent was Escherichia coli (83% of the cases), followed by Klebsiella pneumoniae (7.5%). Resistance to ampicillin (62.6%) and co-trimoxazole (39.8%) were remarkable in all isolates. Overall extended-spectrum beta-lactamase (ESBL) positivity was 23.5%. The highest resistance rates, higher ESBL positivity (28.6%), and K. pneumoniae frequency (13.5%) were observed in group 1. Ceftriaxone resistance was significantly low (0.5%) in the ESBL (-) group, which constituted the majority of the isolates. Higher resistance rates were observed among the patients on prophylaxis compared to those off prophylaxis (P < 0.001).

Conclusion: Ceftriaxone can still be used for empirical treatment; however, initial urine culture results are crucial due to high ESBL positivity. Special consideration must be taken for patients under 1 year of age. Periodical surveillance studies are needed to explore the changing resistance patterns of uropathogens and modify treatment plans.
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http://dx.doi.org/10.1111/ped.14270DOI Listing
September 2020

Discontinuation of RAAS Inhibition in Children with Advanced CKD.

Clin J Am Soc Nephrol 2020 05 6;15(5):625-632. Epub 2020 Apr 6.

Division of Pediatric Nephrology, University Hospital Heidelberg, Heidelberg, Germany.

Background And Objectives: Although renin-angiotensin-aldosterone system inhibition (RAASi) is a cornerstone in the treatment of children with CKD, it is sometimes discontinued when kidney function declines. We studied the reasons of RAASi discontinuation and associations between RAASi discontinuation and important risk markers of CKD progression and on eGFR decline in the Cardiovascular Comorbidity in Children with CKD study.

Design, Setting, Participants, & Measurements: In this study, 69 children with CKD (67% male, mean age 13.7 years, mean eGFR 27 ml/min per 1.73 m) who discontinued RAASi during prospective follow-up were included. Initial change in BP, albuminuria, and potassium after discontinuation were assessed (median time 6 months). Rate of eGFR decline (eGFR slope) during a median of 1.9 years before and 1.2 years after discontinuation were estimated using linear mixed effects modeling.

Results: Physician-reported reasons for RAASi discontinuation were increase in serum creatinine, hyperkalemia, and symptomatic hypotension. After discontinuation of RAASi, BP and albuminuria increased, whereas potassium decreased. eGFR declined more rapidly after discontinuation of RAASi (-3.9 ml/min per 1.73 m per year; 95% confidence interval, -5.1 to -2.6) compared with the slope during RAASi treatment (-1.5 ml/min per 1.73 m per year; 95% confidence interval, -2.4 to -0.6; =0.005). In contrast, no change in eGFR slope was observed in a matched control cohort of patients in whom RAASi was continued.

Conclusions: Discontinuation of RAASi in children with CKD is associated with an acceleration of kidney function decline, even in advanced CKD.
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http://dx.doi.org/10.2215/CJN.09750819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269205PMC
May 2020

The effect of genotype on musculoskeletal complaints in patients with familial Mediterranean fever.

Postgrad Med 2020 Mar 22;132(2):220-224. Epub 2020 Jan 22.

Department of Pediatrics, Division of Pediatric Rheumatology, Ankara University School of Medicine, Ankara, Turkey.

: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self limited attacks of fever with serositis. The aim of this study was to describe the frequency of musculoskeletal complaints in children with FMF and to investigate the effect of genotype on these findings.: Files of patients who had been seen in our department (during routine follow-up visits) were retrospectively evaluated. Comparisons regarding musculoskeletal findings were performed between patients with homozygous/compound heterozygous and heterozygous mutations. Thereafter, patients with two mutations were divided into three groups; M694V/M694V, M694V/other mutation, and patients carrying two mutations other than M694V. Patients with single mutation were divided into two groups; M694V and non M694V carriers.: The study group comprised 317 FMF patients (170 females) with a mean age of 12.2 ± 5.7 years. Arthralgia (42.6%), leg pain (42.9%), and heel pain (35.6%) were the most common musculoskeletal complaints in children with FMF. Frequency of musculoskeletal findings of the patients who had two mutations did not differ from the patients with single mutations (p > 0.05). Leg and heel pain were more frequently detected in patients with homozygous M694V mutation (p = 0.001). Among patients with heterozygous mutations; children with M694V mutation had more frequently arthralgia, leg, and heel pain (p < 0.05).: Musculoskeletal problems were commonly encountered in patients with FMF. Genotype seems to affect the frequency of these problems and M694V mutation is a predisposing factor for musculoskeletal complaints.
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http://dx.doi.org/10.1080/00325481.2019.1708147DOI Listing
March 2020

Sex and age as determinants for high blood pressure in pediatric renal transplant recipients: a longitudinal analysis of the CERTAIN Registry.

Pediatr Nephrol 2020 03 7;35(3):415-426. Epub 2019 Dec 7.

Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.

Background: High prevalence of arterial hypertension is known in pediatric renal transplant patients, but how blood pressure (BP) distribution and control differ between age groups and whether sex and age interact and potentially impact BP after transplantation have not been investigated.

Methods: This retrospective analysis included 336 pediatric renal transplant recipients (62% males) from the Cooperative European Pediatric Renal Transplant Initiative Registry (CERTAIN) with complete BP measurement at discharge and 1, 2 and 3 years post-transplant.

Results: At discharge and 3 years post-transplant, arterial hypertension was highly prevalent (84% and 77%); antihypertensive drugs were used in 73% and 68% of the patients. 27% suffered from uncontrolled and 9% from untreated hypertension at 3 years post-transplant. Children transplanted at age < 5 years showed sustained high systolic BP z-score and received consistently less antihypertensive treatment over time. Younger age, shorter time since transplantation, male sex, higher body mass index (BMI), high cyclosporine A (CSA) trough levels, and a primary renal disease other than congenital anomalies of the kidney and urinary tract (CAKUT) were significantly associated with higher systolic BP z-score. Sex-stratified analysis revealed a significant association between high CSA and higher systolic BP in older girls that likely had started puberty already. An association between BP and estimated glomerular filtration rate was not detected.

Conclusions: BP control during the first 3 years was poor in this large European cohort. The description of age- and sex-specific risk profiles identified certain recipient groups that may benefit from more frequent BP monitoring (i.e. young children) or different choices of immunosuppression (i.e. older girls).
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http://dx.doi.org/10.1007/s00467-019-04395-4DOI Listing
March 2020

The Clinical Characteristics of Pediatric Non-Infectious Uveitis in Two Tertiary Referral Centers in Turkey.

Ocul Immunol Inflamm 2019 Nov 5:1-8. Epub 2019 Nov 5.

Department of Ophthalmology, Ankara University, Ankara, Turkey.

: To report the manifestations, patterns of disease, treatment strategies and outcomes in pediatric patients with noninfectious uveitis.: Demographic information of 76 cases was recorded. Symptoms, anatomic location, laterality, visual acuity (VA), intraocular pressure, associated systemic diseases, therapeutic strategies, side effects, complications were reviewed.: Thirty-one patients were diagnosed as uveitis on routine surveillance because of underlying systemic disease. The most common anatomic location was intermediate uveitis (34.2%). Juvenile idiopathic arthritis (JIA) was the most common underlying systemic disease (25%). Glaucoma was the most common complication (7.7%). The patients with refractory uveitis received adalimumab (26.5%), infliximab (4.6%) and tocilizumab (3.1%). The mean first-year VA was between 20/32 and 20/20 in 116/140 eyes.: Most pediatric noninfectious uveitis cases have bilateral intermediate uveitis. JIA was the most common systemic association. The first-year VA was good in most eyes which may be due to early use of corticosteroid-sparing agents.
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http://dx.doi.org/10.1080/09273948.2019.1674890DOI Listing
November 2019

Indoxyl sulfate associates with cardiovascular phenotype in children with chronic kidney disease.

Pediatr Nephrol 2019 12 19;34(12):2571-2582. Epub 2019 Aug 19.

Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.

Background: Cardiovascular disease is the leading cause of death in children with chronic kidney disease (CKD). Serum levels of gut-derived uremic toxins increase with deterioration of kidney function and are associated with cardiac comorbidities in adult CKD patients.

Methods: Indoxyl sulfate (IS) and p-cresyl sulfate (pCS) were measured by high-performance liquid chromatography in serum of children participating in the Cardiovascular Comorbidity in Children with CKD (4C) Study. Results were correlated with measurements of the carotid intima-media thickness (cIMT), central pulse wave velocity (PWV), and left ventricular mass index (LVMI) in children aged 6-17 years with initial eGFR of 10-60 ml/min per 1.73 m.

Results: The median serum levels of total IS and of pCS, measured in 609 patients, were 5.3 μmol/l (8.7) and 17.0 μmol/l (21.6), respectively. In a multivariable regression model, IS and pCS showed significant positive associations with urea and negative associations with eGFR and uric acid. Furthermore, positive associations of pCS with age, serum albumin, and non-Mediterranean residency and a negative association with glomerular disease were observed. By multivariable regression analysis, only IS was significantly associated with a higher cIMT SDS at baseline and progression of PWV SDS within 12 months, independent of other risk factors.

Conclusions: Serum levels of gut-derived uremic toxins IS and pCS correlated inversely with eGFR in children. Only IS was significantly associated with surrogate markers of cardiovascular disease in this large pediatric CKD cohort.
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http://dx.doi.org/10.1007/s00467-019-04331-6DOI Listing
December 2019

Alemtuzumab as a Successful Antirejection Therapy: Experience in a Pediatric Renal Transplant Patient.

Exp Clin Transplant 2019 02 22. Epub 2019 Feb 22.

From the Department of Pediatrics, Division of Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Alemtuzumab is a monoclonal antibody against CD52 that is being increasingly used in renal transplantation as a lymphocyte-depleting agent. Data on alemtuzumab use in resistant rejection episodes are scarce, especially in children. Here, we present a 14-year-old renal transplant patient with acute cellular and humoral rejection who was treated with pulse steroids, plasmapheresis, and intravenous immunoglobulin with no success. He had 2 previous rejection episodes that were treated with antithymocyte globulin. In the third episode, alemtuzumab was given as a rescue therapy, and the patient benefited from the treatment. No complications were observed. Alemtuzumab can be a treatment option in pediatric patients with refractory rejection episodes.
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http://dx.doi.org/10.6002/ect.2018.0203DOI Listing
February 2019

Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.

J Clin Lab Anal 2019 May 4;33(4):e22852. Epub 2019 Feb 4.

Department of Pediatric Rheumatology and Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Background: Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease-causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation.

Methods: Files of FMF patients were retrospectively evaluated. Patients with at least one E148Q mutation were included to the study. The clinical characteristics and disease severity of the patients who were carrying only E148Q mutation were compared with the patients who were compound heterozygous for E148Q and homozygous for M694V mutation.

Results: The study group comprised 33 patients who were homozygous or heterozygous for E148Q; 34 with compound heterozygous E148Q mutations and 86 patients who had homozygous M694V mutation. Patients who had only E148Q mutation were found to have the oldest mean age of disease onset and lowest mean disease severity score. Attack frequency and colchicine doses were lower in patients with only E148Q mutation as compared with the other two groups. The frequency of clinical findings such as fever, abdominal pain, arthralgia, and arthritis among the three groups was similar.

Conclusion: Familial Mediterranean fever patients with only E148Q mutation are presenting with late-onset and milder disease course despite having similar clinical findings as compared with patients who had other mutations. Finally, we imply that E148Q is a mutation and colchicine treatment should be given.
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http://dx.doi.org/10.1002/jcla.22852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528560PMC
May 2019

Transplantation within the era of anti-IL-1 therapy: case series of five patients with familial Mediterranean fever-related amyloidosis.

Transpl Int 2018 10 13;31(10):1181-1184. Epub 2018 Jul 13.

Department of Pediatrics, Division of Pediatric Rheumatology & Nephrology, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1111/tri.13312DOI Listing
October 2018

Acute kidney injury in congenital cardiac surgery: Pediatric risk-injury-failure-loss-end-stage renal disease and Acute Kidney Injury Network.

Pediatr Int 2017 Dec;59(12):1252-1260

Pediatric Cardiology, Ankara University Faculty of Medicine, Ankara, Turkey.

Background: Acute kidney injury (AKI) is associated with an increased risk of mortality, especially in pediatric intensive care units. The aim of this study was to determine the risk factors of AKI in children undergoing cardiac surgery for congenital heart disease and to compare two different classification systems: pediatric risk-injury-failure-loss-end-stage renal disease (pRIFLE) and Acute Kidney Injury Network (AKIN).

Methods: We retrospectively analyzed 145 patients undergoing pediatric congenital heart surgery who were between 1 month and 18 years of years, and treated at a cardiovascular surgery department from January 2009 to October 2011.

Results: One hundred and thirty-seven patients (mean age, 36.6 ± 43.3 months) were enrolled: 84 (61.3%) developed AKI according to the pRIFLE criteria (25.5%, risk; 20.4%, injury; 15.3%, failure); and 65 patients (47.4%) developed AKI according to the AKIN criteria (15.3%, stage I; 18.2%, stage II; and 13.9%, stage III). Children younger than 11 months were more likely to develop AKI (P < 0.005). Longer cardiopulmonary bypass time was associated with an increased risk of AKI (P < 0.05). pRIFLE identified AKI more frequently than AKIN (P < 0.0005). pRIFLE may help in the early identification of patient at risk for AKI and seems to be more sensitive in pediatric patients (P < 0.05). Any degree of AKI in both classifications was associated with increased mortality (pRIFLE: OR, 15.1; AKIN: OR, 11.2; P = 0.007).

Conclusion: pRIFLE identified AKI more frequently than the AKIN criteria. pRIFLE identified patients at risk for AKI earlier, and was more sensitive in pediatric patients. Any degree of AKI in both classifications was associated with increased mortality. Both sets of criteria had the same association with mortality.
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http://dx.doi.org/10.1111/ped.13359DOI Listing
December 2017

The association between obesity, hypertension and left ventricular mass in adolescents.

J Pediatr Endocrinol Metab 2017 Feb;30(2):167-174

Background: Obesity and hypertension (HT) are well known cardiac risk factors. Our goal was to show that even if arterial blood pressure (BP) measurements of obese adolescents are normal during clinical examination, ambulatory blood pressure monitoring (ABPM) can be high, may include cardiac involvement and can also detect left ventricular mass indices (LVMI) value for obese adolescents to diagnose left ventricular hypertrophy (LVH).

Methods: This study included 130 children (57 obese hypertensive, 36 obese normotensive, 14 normal weight hypertensive and 23 normal weight normotensive). Adolescents whose BP was measured during clinical examination, after 24-h BP was detected using ABPM, were examined with echocardiography for calculation of LVMI to determine cardiac risk factors for LVH.

Results: There was a significant difference between the LVMI of obese-normotensive and obese-hypertensive adolescents, which showed the effect of obesity on LVMI independent of HT. Twenty (35.7%) of 56 obese adolescents with HT detected with ABPM had normal BP measurements during clinical examination. Dipper and nondipper features of obese adolescents were significantly higher in ABPM than those with normal body mass index. When the cutoff LVMI value for LVH was set at ≥38 g/m2.7, 38.9% of obese-normotensive and 50.9% of obese-hypertensive subjects had LVH; however, when the cutoff value was set at ≥51 g/m2.7, the rates were 2.8% and 19.3%, respectively.

Conclusions: Obesity is a risk factor for LVH independent of HT. To identify masked HT, 24-h ABPM and cardiac examination should be routinely performed in obese adolescents. Using a limit of LVMI ≥38 g/m2.7 in evaluating LVH secondary to HT in obese individuals may lead to an overestimated diagnosis rate of LVH.
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http://dx.doi.org/10.1515/jpem-2016-0170DOI Listing
February 2017

Familial Mediterranean fever gene mutation frequencies in a sample Turkish population.

Clin Exp Rheumatol 2016 Sep-Oct;34(6 Suppl 102):97-100. Epub 2016 Oct 17.

Department of Paediatric Nephrology and Rheumatology, School of Medicine, Ankara University, Ankara, Turkey.

Objectives: Our knowledge about the frequencies of mutations in the Turkish population is based on the studies on the affected patients and hospital-based control groups. We aimed to determine the frequencies of MEFV gene mutations in a population-based field study in Turkey.

Methods: Turkish citizens aged between 5 and 65 years were included in the study. Cities from seven regions of Turkey were studied. Blood samples were obtained from individuals who gave permission for laboratory experiments, and they were analysed for 10 MEFV gene mutations.

Results: Among 500 participants, MEFV mutations were found in 74 (14.8%). Sixty four (12.8%), 7 (1.4%), and 3 (0.6%) participants were heterozygous, compound heterozygous, and homozygous, respectively. Among inhabitants with heterozygous mutations, the most common heterozygous mutations were E148Q/- and M694V/-. Sixteen participants were found to be heterozygous for M694V, 2 were compound heterozygous for M694V/E148Q, and one was homozygous for M694V/M694V mutation; in total, the frequency of M694V allele was 4% (n=20). Twenty-three (4.6%) individuals were heterozygous for common mutations (M694V, M680I, V726A). Total allelic frequency was 8.4%.

Conclusions: Our study, which describes the MEFV mutational spectrum and distribution in a healthy Turkish population, found a carrier rate that is much higher than expected.
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February 2017

Campylobacter jejuni: A rare agent in a child with peritoneal dialysis-related peritonitis.

Arch Argent Pediatr 2016 Oct 1;114(5):e354. Epub 2016 Oct 1.

Department of Pediatric Infectious Diseases, Ankara University Medical School, Ankara, Turkey.

Unlabelled: Peritonitis is a serious problem in children receiving peritoneal dialysis. Campylobacter jejuni is an unusual cause of peritonitis. A 10-year-old boy who had end stage renal failure due to atypical hemolytic uremic syndrome was admitted to our hospital with abdominal pain and fever. Peritoneal dialysis fluid was cloudy and microscopic examination showed abundant leukocytes. Intraperitoneal cefepime treatment was started. Campylobacter jejuni was isolated from peritoneal dialysis fluid culture and oral clarithromycin was added to the treatment. At the end of therapy, peritoneal fluid culture was negative. To our knowledge, C. jejuni peritonitis was not reported in children previously.

Conclusion: Although C. jejuni peritonitis is rarely encountered in children, it should be considered as an etiologic factor for peritonitis.
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http://dx.doi.org/10.5546/aap.2016.e354DOI Listing
October 2016

Two children with steroid-responsive nephrotic syndrome complicated by cerebral venous sinus thrombosis.

Nefrologia 2015 21;35(5):497-500. Epub 2015 Jul 21.

Division of Pediatric Nephrology, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.nefro.2015.06.001DOI Listing
May 2017

Lower urinary tract dysfunction is frequently seen in urinary tract infections in children and is often associated with reduced quality of life.

Acta Paediatr 2014 Oct 18;103(10):e454-8. Epub 2014 Jul 18.

Department of Paediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Aim: Previous studies suggest that 6-46% of children suffer from lower urinary tract dysfunction (LUTD). This study evaluated the prevalence of LUTD in children with a urinary tract infection (UTI) and assessed the impact of standard urotherapy on patients with LUTD.

Methods: We enrolled 228 patients who were 4 years of age or older with at least one episode of UTI, together with a control group of 100 children. All the children were evaluated using the Pediatric Lower Urinary Tract Symptom Score (PLUTSS), and the intervention group were re-assessed after therapy to gauge their response.

Results: Lower urinary tract dysfunction was detected in 134 (59%) patients. Their mean PLUTSS was 15.9 ± 5.3, and 78% of these patients had a reduced quality of life (QOL). After 5 ± 2.7 months of behavioural therapy, 105 (78%) patients with LUTD were evaluated for the second time. This showed that LUTD was ameliorated in 69% of the patients and improved in 26%, with a mean post-treatment PLUTSS of 6.6 ± 5.6. Two control group children had LUTD.

Conclusion: Lower urinary tract dysfunction was frequently seen in patients with UTIs, but standard urotherapy was usually successful. Most of the patients in our study with LUTD also had an impaired QOL.
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http://dx.doi.org/10.1111/apa.12732DOI Listing
October 2014

Can colchicine response be predicted in familial Mediterranean fever patients?

Rheumatology (Oxford) 2014 Oct 24;53(10):1767-72. Epub 2014 Apr 24.

Division of Pediatric Rheumatology & Nephrology, Department of Pediatrics and Department of Biostatistics, Ankara University School of Medicine, Ankara, Turkey.

Objectives: The aims of this study were to explore whether the demographic and clinical features of paediatric familial Mediterranean fever (FMF) patients with different colchicine response vary or not and to determine whether colchicine response can be predicted in FMF patients.

Methods: Files of patients who have been on colchicine therapy for at least 6 months were retrospectively evaluated. Patients were divided into two groups: group I included patients with no attacks after colchicine and group II comprised patients with ongoing attacks. Thereafter group II was further divided into two groups according to the reduction rate of attack frequency: group IIA (>50%) and group IIB (≤50%).

Results: The study group comprised 221 FMF patients (116 females, 105 males). There were 131 patients in group I and 90 patients in group II (54 in group IIA and 36 in group IIB). Leg pain and M694V homozygosity were more frequent in group II (P < 0.05). Final colchicine doses, disease severity scores and number of patients with elevated acute phase reactant levels (attack-free period) were significantly higher and colchicine compliance was lower in group II when compared with group I (P < 0.05). Erysipelas-like erythema (ELE), leg pain and protracted arthritis/protracted febrile myalgia/vasculitis were more frequently detected in group IIB (P < 0.05).

Conclusion: Colchicine response is excellent in the majority of FMF patients, however, colchicine unresponsiveness cannot be predicted easily at onset. More rarely encountered clinical findings such as ELE, leg pain and protracted complaints and M694V homozygosity may be a clue for less colchicine response.
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http://dx.doi.org/10.1093/rheumatology/keu138DOI Listing
October 2014

Urinary tract infections owing to ESBL-producing bacteria: microorganisms change--clinical pattern does not.

Acta Paediatr 2011 Aug 30;100(8):e61-4. Epub 2011 Mar 30.

Department of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Aim: Urinary tract infections (UTIs) caused by extended-spectrum beta lactamase (ESBL)-producing bacteria have become a growing problem worldwide. The aim of this study was to investigate the clinical and radiological findings in patients with community-acquired UTIs owing to ESBL-producing bacteria.

Methods: Files of the patients that had UTI owing to ESBL-producing bacteria, between January 2008 and December 2009, were retrospectively evaluated.

Results: One hundred and eleven UTI episodes in 94 patients were included. Seventy-five per cent of the patients had recurrent UTIs. Ultrasound, dimercaptosuccinic acid (DMSA) scintigraphy and voiding cystourethrography (VCUG) were found abnormal in 36%, 46% and 31% of the patients, respectively. Overall, 68% of the patients had ≥1 underlying predisposing factor for UTI. Male patients and acute pyelonephritis (APN) episodes were more frequent at small ages. The rate of female patients and cystitis episodes predominated with increasing age. Ultrasound, DMSA scintigraphy, VSUG and UT abnormalities were more frequent in patients with APN, and lower UT disturbances were more frequent in patients with cystitis.

Conclusion: UTIs owing to ESBL-producing bacteria begin to replace UTIs owing to non-ESBL-producing bacteria. However, the clinical pattern of these infections does not seem to be different. Thus, our aim should be to correct underlying predisposing factors in general in order to prevent infections owing to ESBL-producing bacteria.
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http://dx.doi.org/10.1111/j.1651-2227.2011.02262.xDOI Listing
August 2011

Angiodysplasia as a cause of severe hematochezia in a child with end-stage renal failure.

Ren Fail 2011 ;33(2):252-4

Department of Pediatric Gastroenterology, School of Medicine, Ankara University, Ankara, Turkey.

Angiodysplasia is a frequent cause of gastrointestinal bleeding in adults with chronic renal failure (CRF); however, there is no data about this association in children. The mechanism of this association is not known. We report a 4.5-year-old boy with CRF presenting with hematochezia due to colonic angiodysplasia. He was on hemodialysis for the previous 9 months. Treatment with argon plasma coagulation (APC) was commenced following a short course of octreotide therapy. During the 3 years of follow-up, no occult or gross bleeding occurred. This case illustrates that octreotide and APC therapy seems to be useful for arresting bleeding from angiodysplasia and prevention of recurrent bleeding in children with CRF.
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http://dx.doi.org/10.3109/0886022X.2011.553299DOI Listing
June 2011

Quality of life in children with chronic kidney disease (with child and parent assessments).

Pediatr Nephrol 2010 Aug 10;25(8):1487-96. Epub 2010 Apr 10.

Department of Pediatric Nephrology, Gazi University, School of Medicine, Besevler, Ankara, Turkey.

Herein the results of a multicenter study from the Turkish Pediatric Kidney Transplantation Study Group are reported. The aims of this study were to compare the quality of life (QoL) scores of Turkish children who are dialysis patients (DP), renal transplant recipients (TR), and age-matched healthy controls and to compare child-self and parent-proxy scores. The Turkish versions of the Kinder Lebensqualität Fragebogen (KINDL(R)) questionnaires were used as a QoL measure. The study group consisted of 211 children and adolescents with chronic kidney disease (CKD) (139 TR and 72 DP aged between 4-18 years; 13.7 +/- 3.5 years) from 11 university hospitals, 129 parents of these patients, 232 age-matched healthy children and adolescents (aged between 4-18 years; 13.1+/-3.5 years) and 156 of their parents. Patients with CKD had lower scores in all subscales except for physical well-being than those in the control group. TR had higher scores in physical well-being, self-esteem, friends' subscales, and total scores than DP. Child-self scores were lower than parent-proxy scores, especially in CKD, DP, and control groups. Concordance between parent-proxy and child-self reports in the TR, DP, CKD, and control groups was only moderate for the majority of subscales (r = 0.41-0.61). It was concluded that parent-proxy scores on the QoL were not equivalent to child-self scores and that evaluating both children's and parents' perspectives were important. Additionally, psychosocial counseling is crucial not only for patients with CKD but also for their parents.
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http://dx.doi.org/10.1007/s00467-010-1486-1DOI Listing
August 2010

Ochoa syndrome: a spectrum of urofacial syndrome.

Eur J Pediatr 2010 Apr 11;169(4):431-5. Epub 2009 Aug 11.

Division of Pediatric Urology, School of Medicine, Ankara University, Ankara, Turkey.

The urofacial syndrome, also known as Ochoa syndrome, is a rare autosomal recessive condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems due to a dysfunctional bladder. We report 11 patients with urofacial syndrome in five families from Turkey with a median follow up of 32 months (range, 2-44 months).
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http://dx.doi.org/10.1007/s00431-009-1042-9DOI Listing
April 2010

Prospective evaluation of acute and chronic renal function in children following matched related donor hematopoietic stem cell transplantation.

Pediatr Transplant 2010 Feb 6;14(1):138-44. Epub 2009 Apr 6.

Department of Pediatric Hematology, Ankara University School of Medicine, Ankara, Turkey.

Acute and chronic renal impairment are important complications after HSCT. A prospective study was conducted to investigate the glomerular renal function in children who received allogeneic HSCT from matched related donors. Non-radiation conditioning regimens were used in all but one patient. CrCl and serial measurements of serum creatinine were evaluated prior to HSCT, within the first 100 days and one yr after. AKI was defined as at least a 1.5-fold rise in pre-HSCT serum creatinine within the first 100 days and classified as grade 1 to 3 according to the new definition criteria proposed by "AKI Network." Fifty-seven patients were enrolled in the study and 24 patients (42%) had AKI. CsA, amphotericin B, and SOS were found as risk factors for AKI. One yr after HSCT five patients (10%) had CKD and none of them required dialysis. None of the parameters were found as a predictor for CKD. We conclude that AKI is an important complication of HSCT. Careful monitoring of renal function, minimizing the use of nephrotoxic medication, prophylaxis, and effective treatment of SOS might be effective preventive measures to decrease the incidence of AKI.
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http://dx.doi.org/10.1111/j.1399-3046.2009.01182.xDOI Listing
February 2010

A new set of criteria for the diagnosis of familial Mediterranean fever in childhood.

Rheumatology (Oxford) 2009 Apr 4;48(4):395-8. Epub 2009 Feb 4.

Department of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Objectives: Several sets of criteria mainly for adults have been proposed for the diagnosis of FMF. The aim of the present study is to validate the most widely used diagnostic 'Tel Hashomer' criteria in children and to establish a new set of criteria for use in childhood.

Methods: The study group consisted of 170 recently diagnosed FMF patients who had mutations at both alleles. They were interviewed about the presence of 35 features and manifestations of FMF at the time of diagnosis. Controls were consecutive patients without FMF (n = 141) who had episodes of fever and clinical features mimicking that of FMF. The diagnostic performance of the candidate features was assessed by multiple logistic regression analysis.

Results: The sensitivity and specificity of Tel Hashomer criteria in our study group were 98.8 and 54.6%, respectively. The multiple logistic regression analysis showed that 5 (fever, abdominal pain, chest pain, arthritis and family history of FMF) of the 35 candidate criteria discriminate FMF from controls with a sensitivity and specificity of 88.8 and 92.2%, respectively. The presence of two or more of these five criteria diagnosed FMF with a sensitivity of 86.5% and a specificity of 93.6%.

Conclusion: It was demonstrated that although the Tel Hashomer criteria were successful in diagnosing the FMF patients in childhood, its specificity was definitely low in children. The new set of criteria has a high sensitivity and specificity for the diagnosis of FMF and is practical to use on an everyday basis.
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http://dx.doi.org/10.1093/rheumatology/ken509DOI Listing
April 2009

The outcome for pediatric patients on peritoneal dialysis.

J Nephrol 2008 May-Jun;21(3):394-9

Department of Pediatric Nephrology, Ankara University Faculty of Medicine, Ankara, Turkey.

Background: The adverse effects of peritonitis and of the duration of dialysis on dialysis adequacy and clinical outcome were evaluated in this study.

Methods: The study comprised 24 chronic peritoneal dialysis patients who were followed up at least for 12 months. Casual blood pressure (BP) measurements, echocardiographic evaluation, peritonitis rate, hemoglobin (Hb), serum albumin, normalized protein catabolic rate (nPCR), total Kt/Vurea, weekly creatinine clearance (CCr), residual renal function (RRF), removal of fluid and dose of recombinant human erythropoietin (EPO) were evaluated.

Results: Mean age of the patients was 15.3 +/- 3.6 years. Mean follow-up was 50.4 +/- 26.8 months. Peritonitis rate was calculated as 1 episode/32.7 patient-months. Systolic hypertension was detected in 14 patients (58%) and diastolic hypertension in 15 (63%). RRF showed a negative correlation with duration on dialysis (r=-0.623, p=0.006). There was no significant correlation between RRF and nPCR, Hb, hematocrit, albumin and dose of EPO. A negative correlation was found with left ventricular mass index and fluid removal (r=-0.461, p=0.041). Higher doses of Kt/Vurea are associated with higher protein intake (r=0.503, p=0.024). A positive correlation was found between Kt/Vurea and Hb and Hct levels (r=0.460, p=0.009, and r=0.528, p=0.017, respectively). Dialysis adequacy tests were found not to be affected by the frequency of peritonitis.

Conclusion: The most important factor for the prevention of hypervolemia in chronic peritoneal dialysis patients is RRF. The concept of adequate dialysis should include normal volume homeostasis, control of blood pressure and adequate nutrition.
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September 2008

Acremonium spp. peritonitis in an infant.

Mycoses 2008 Sep 16;51(5):455-7. Epub 2008 Apr 16.

Pediatric Intensive Care Unit, Ankara University School of Medicine, Ankara, Turkey.

Fungal peritonitis is a rare but serious complication in children on peritoneal dialysis. Clinical presentation of fungal peritonitis is similar to bacterial peritonitis and Candida spp. are the most common agent. Fungal peritonitis has been usually associated with high morbidity, mortality and its treatment is difficult. In this report, we present an infant with Acremonium spp. peritonitis. A 7-month-old boy with Down syndrome, congenital heart disease, pulmonary hypertension and congestive heart failure required peritoneal dialysis for his persistent pulmonary oedema and symptomatic hyponatremia. Acremonium spp. peritonitis developed while he was on extended spectrum antibiotics and fluconazole. The patient was successfully treated with peritoneal dialysis catheter removal and liposomal amphotericin B. The case was presented to draw attention to a rare cause of peritonitis -Acremonium spp. - in a paediatric patient.
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http://dx.doi.org/10.1111/j.1439-0507.2008.01496.xDOI Listing
September 2008