Assessment of Ten-Year-Long Results of Kidney Biopsies Performed on Children in the Thrace Region of Turkey

Background: Many children with kidney diseases can be diagnosed and treated without a biopsy. However, biopsy is a valuable method for the diagnostic and prognostic evaluation of children with kidney diseases. Aims: To evaluate the clinical and pathological profiles of the kidney biopsies in our department to provide epidemiological data for clinical practice. Study Design: Retrospective cross-sectional study. Methods: Kidney biopsies and patient's charts in pediatric patients performed between May 2005 and February 2015 at the Pediatric Nephrology Department, Trakya University School of Medicine were assessed retrospectively. Results: A total of 100 patients were examined. Their mean age was 9.62±4.26 years (range: 1-17 years); 54% of the patients were girls and 46% were boys. The most frequent indication for kidney biopsy was nephrotic syndrome (33%). The most common kidney disease was primary glomerulonephritis, which was observed in 65% of cases. IgA nephropathy (24%) was the most frequently observed subtype in primary glomerulonephritis groups. Secondary glomerulonephritis was diagnosed in 35% of cases. Systemic lupus erythematosus (51%) was the most frequently observed subtype in the secondary glomerulonephritis groups. Conclusion: IgA nephropathy and systemic lupus erythematosus were the most frequent primary and secondary glomerulonephritis in our region among children, respectively

Boy kısalığı: Olgu sunumu (Probleme dayalı hasta sunumu)

Short stature is a very frequent problem in p;eacute;diatrie clinics. in this report 6 years old short statured patient is discussed about etiologic factors. the patient was admitted with the symptoms of growth retardation, nocturnal enuresis and recurrent abdominal pain for a year. on physical examination, weight was 10-25 p whereas height was ;lt; 3 p. on evaluation, short stature was patologic and proportional. After the exclusion of prenatal causes, we examined the patient for postnatal factors causing short stature. Patient was evaluated for renal disease due to urinary tract infection and 5th degree vesicoureteral reflux was detected. After treatment with oxybutynin and antibacterial prophilaxis, height of the patient was increased to 3-10 pat the 5th month follow up.Kısa boylu çocuk, pediatri kliniğinde en sık gündeme gelen konudur. Bu çalışmada da boy kısalığı olan 6 yaşındaki hasta etiyolojik nedenler açısından tartışılmaktadır. Hasta doğumdan beri büyüme geriliği, gece idrar kaçırma ve son bir yıldır tekrarlayan karın ağrısı yakınmalarıyla başvurmuştur. Olgunu ağırlığı 10-25 p olsa da boyu 3 p altında olması nedeniyle boy kısalığı ile uyumlu bulunmuştur. Yapılan incelemeler sonucu boy kısalığı patolojik ve orantılı olarak değerlendirildi. Prenatal nedenler ekarte edildikten sonra postnatal nedenler arasında kronik hastalıklar araştırılmıştır, idrar yolu enfeksiyonu (İYE) saptanan hastada renal hastalıklar açısından yapılan incelemeler sonucu 5. derece vesikoüreteral reflü (VUR) saptanmıştır. Oksibutinin ve antibakteriyel profilaksi ile tedavi sonrası izlemin 5. ayında hastanın boyunun 3-10 p'e yükseldiği gözlenmiştir

MEFV gene exon 2 and exon 10 gene region mutations of familial mediterranean fever patients in Trakya population

Amaç: Çalışmamızın amacı Trakya populasyonunda Ailevi Akdeniz Ateşi etyopatogenezinde yer alan MEFV geni ekson 2 ve ekson 10 gen bölgesi mutasyonlarının otomatize DNA dizi analizi metodu ile araştırılarak elde edilen sonuçların literatürdeki diğer çalışmalar ile karşılaştırılmasıdır. Hastalar ve Yöntemler: Çalışmaya Ailevi Akdeniz Ateşi tanılı hastalardan, birbirileri ile akrabalık ilişkisi bulunmayan, aynı karakteristik dil özellikleri gösteren ve en az üç kuşaktır Trakya Bölgesi'nde yaşayanlar (34 kadın, 34 erkek) dahil edildi. MEFV geni ekson 2 ve ekson 10 gen bölgeleri polimeraz zincir tepkimesi ile çoğaltılarak, otomatize DNA dizi analizi metodu ile nükleotid dizileri belirlendi. Bulgular: Trakya populasyonunda MEFV geni ekson 2 gen bölgesinde G442C, T306C, A414G, C495A, G605A, ekson 10 gen bölgesinde G2040C, A2080G, G2082A, A2084G, T2177C, G2282A tek nükleotid değişimleri belirlendi. Sonuç: Çalışmamızın sonuçları MEFV geni ekson 2 gen bölgesinde belirlediğimiz T306C, A414G, C495A, G605 tek nükleotid değişiklikleri ve ekson 10 gen bölgesinde belirlediğimiz mutasyonların sıklıkları açısından literatür ile farklılıklar göstermektedir.Objectives: The objective of the study is to explore the MEFV gene exon 2 and exon 10 gene region mutations which take place in etiopathogenesis of Familial Mediterranean Fever in the Thrace population with the DNA sequence analysis method and to compare the results with the other studies. Patients and Methods: The study included patients with Familial Mediterranean Fever who have no relative relationship, have the same linguistic characteristic and live in the Thrace region for at least three generations (34 females, 34 males). MEFV gene exon 2 and exon 10 gene regions multiplied with PCR and their nucleotids were determined with the DNA sequence analysis method. Results: G442C, T306C, A414G, C495A, G605A SNPs were found in MEFV gene exon 2 gene region and G2040C, A2080G, G2082A, A2084G, T2177C, G2282A SNPs were found in MEFV gene exon 10 gene region in the Thrace population. Conclusion: The T306C, A414G, C495A, G605 single-nucleotide polymorphisms in MEFV gene exon 2 gene region and the mutations in exon 10 gene region are not compatible in terms of their frequencies with the results of the other studies

66 konjenital kalp hastalıklı olguda aile ağacı analizi

Objective: To evaluate the genetic characteristics of patients with congenital heart disease. Material and Method: Sixty six patients with congenital heart disease were evaluated. Findings of the study group were compared to the findings of 46 healthy children. Results: Fifty three (80.3%) of patients had non-cyanotic, 11 (16.6%) had cyanotic, and 2 (3%) had conduction system disturbance type congenital heart disease. The most commonly seen non-cyanotic congenital heart diseases were found to be as following: Atrial septal defect (18.1%), pulmonary stenosis (18.1%), and ventricular septal defect (16.6%). However; most commonly seen cyanotic congenital heart diseases were Tetrology of Fallot (9%), and tricuspid atresia (4.5%). Pedigree analysis displayed family history of congenital heart diseases in 12 out of 66 families (18.1%). The frequency of congenital heart disease among the relatives of patient group and control group were found to be 0.22% and 0.07% respectively. The frequency of consanguineous marriages was 22.7% in the patient group whereas this frequency was 4.3% in the control group (p=0.0075). Congenital heart disease was associated with genetic syndrome in 9 of the 66 patients. Conclusion: Consanguineous marrigeas is one of the risk factors. The frequency of congenital heart diesase is 3.48 times higher in the families of congenital heart disease patients than that in the families of normal individuals. Pedigree analysis should be carried out and genetic counseling should be done in every patient with congenital heart disease In addition, it should be kept in mind that this disease could be a component of a genetic syndrome. Therefore, genetic stigmata should be carefully evaluated.Amaç: Konjenital kalp hastalıklı hasta ve ailelerinde genetik özellikleri araştırmaktır. Gereç ve Yöntem: 66 konjenital kalp hastalıklı olgu ve aileleri değerlendirildi. Bulgular, benzer yaştaki 46 sağlıklı çocuk ve aileleri ile karşılaştırıldı. Bulgular: Hastaların 53'ü (%80.3) nonsiyanotik. 11'i (%16.6) siyanotik ve 2'si (%3) iletim sistemi defekti tipinde konjenital kalp hastalığına sahipti. En sık rastlanan nonsiyanotik konjenital kalp hastalıkları atriyal septal defekt (%18.1). pulmoner stenoz (%18.1) ve ventriküler septal defekt (%16.6); siyanotik konjenital kalp hastalıkları Fallot tetrolojisi (%9) ve trikuspit atrezisi (%4.5) olarak saptandı. Hasta grubundan 12'sinin (%18.1). kontrol grubundan 1 kişinin (%2.1) ailesinde konjenital kalp hastalıklı birey mevcuttu. Hasta grubundaki 7863 aile bireyinin 18'inde (%0.22). kontrol grubundaki 1486 aile bireyinin 1'inde (%0.07) konjenital kalp hastalığı vardı. Hasta grubunun 15'inde (%22.7). kontrol grubunun 2'sinde (%4.3) anne-baba akrabalığı vardı (p=0.0075). Hasta grubunun 9'unda konjenital kalp hastalığı bir genetik sendroma eşlik ediyordu. Sonuç: Akraba evliliği, birçok genetik hastalıkta olduğu gibi konjenital kalp hastalıklarının etyolojisinde de önemli yer tutmaktadır. Ailesinde konjenital kalp hastalığı olan bireylerde, normal popülasyona göre konjenital kalp hastalığı riski 3.48 kez artmıştır. O halde, konjenital kalp hastalıklı ve ebeveyni akraba olan bireylerin aileleri mutlaka araştırılmalı ve genetik danışma verilmelidir. Ayrıca, bu hastalığın genetik bir sendromun komponenti olabileceği de düşünülerek genetik stigmatlar dikkatle değerlendirilmelidir

Rituximab treatment for difficult-to-treat nephrotic syndrome in children: A multicenter, retrospective study

Background/aim: This study aimed to evaluate the efficacy of rituximab in children with difficult-to-treat nephrotic syndrome, considering the type of disease (steroid-sensitive or -resistant) and the dosing regimen. Materials and methods: This multicenter retrospective study enrolled children with difficult-to-treat nephrotic syndrome on rituximab treatment from 13 centers. The patients were classified based on low (single dose of 375 mg/m(2)) or high (2-4 doses of 375 mg/m(2)) initial dose of rituximab and the steroid response. Clinical outcomes were compared. Results: Data from 42 children [20 steroid-sensitive (frequent relapsing / steroid-dependent) and 22 steroid-resistant nephrotic syndrome, aged 1.9-17.3 years] were analyzed. Eleven patients with steroid-sensitive nephrotic syndrome (55%) had a relapse following initial rituximab therapy, with the mean time to first relapse of 8.4 +/- 5.2 months. Complete remission was achieved in 41% and 36% of steroid-resistant patients, with the median remission time of 3.65 months. At Year 2, eight patients in steroid-sensitive group (40%) and four in steroid-resistant group (18%) were drug-free. Total cumulative doses of rituximab were higher in steroid-resistant group (p = 001). Relapse rates and time to first relapse in steroid-sensitive group or remission rates in steroid-resistant group did not differ between the low and high initial dose groups. Conclusion: The current study reveals that rituximab therapy may provide a lower relapse rate and prolonged relapse-free survival in the steroid-sensitive group, increased remission rates in the steroid-resistant group, and a significant number of drug-free patients in both groups. The optimal regimen for initial treatment and maintenance needs to be determined