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Amaç: Nefropatik sistinozis, sistinozisin en ağır formudur ve genellikle geç çocukluk çağında son dönem böbrek hastalığı ile sonuçlanır. Çalışmada nefropatik sistinozis tanısı ile izlenen hastaların klinik ve laboratuvar özellikleri, tanı ve tedavide karşılaşılan güçlükler ve prognozunun değerlendirilmesi amaçlandı.Gereç ve Yöntemler: Kliniğimizde 1996-2012 yılları arasında nefropatik sistinozis tanısı ile izlenmiş olan 15 hastanın dosyaları geriye dönük olarak incelendi.Bulgular: Hastaların yaş ortalaması 31.8 ± 35.9 ay (6-144 ay)’dı. 11 (% 73.3) hastada akraba evliliği saptandı. Poliüri polidipsi ve gelişme geriliği, en sık görülen bulgulardı. Başvuruda ortalama glomerüler filtrasyon hızı (GFH ) 47.6 ± 29.9 ml / dak / 1.73 m2 (6.30-100) idi. Korneal sistin kristalleri hastaların 12(% 80)’sinde vardı. Üç hastada lökosit içi sistin düzeyine bakıldı ve üçünde de yüksek saptandı. Takip sırasında 10 hastada kronik böbrek hastalığı (KBH) gelişti ve bunların da üçünde son dönem böbrek hastalığı (SDBH) gelişti. İki hasta ise takipten çıktı.Sonuç: Nefropatik sistinozis tanı ve tedavisinde ülkemizde halen teknik, sosyal ve finansal problemler mevcuttur. Bu nedenle özellikle de hastalığın ortaya çıkışını azaltabilmek amacıyla akraba evliliklerinin önlenmesine yönelik çaba sarfetmek gerekmektedir., Objective: Nephropathic cystinosis is the most severe form of cystinosis and usually leads to end stage renal disease in late childhood. We aimed to investigate the clinical and laboratory findings, therapeutic and diagnostic difficulties and prognosis of patients with nephropathic cystinosis.Material and Methods: The medical records of fifteen patients who were diagnosed as cystinosis between 1996 and 2012 were retrospectively evaluated. Results: The mean age of the patients was 31.8±35.9 months (6-144 months). 11 (73.3 %) had parental consanguinity. Polyuria, polydipsia and failure to thrive were the most common features. Mean glomerular filtration rate (GFR) was 47.6±29.9 ml/min/1.73 m2 at admission. Corneal cystine crystals were detected in 12 (80 %) of the patients. We measured leukocyte cysteine levels in only three patients and found it above normal limits. During follow up, 10 patients developed chronic kidney disease (CKD) and three of them reached end-stage renal disease (ESRD). Two of the patients were lost to follow up.Conclusion: There are still many technical and financial problems in the diagnosis and management of cystinosis in our country. Efforts should therefore be directed towards the avoidance of consanguineous marriages to decrease the incidence of the disease

Background: atypical hemolytic uremic syndrome (aHUS) occurs due to defective regulation of the alternative complement pathway (ACP) on vascular endothelial cells. Plasma based therapy (PT) was the mainstay of the treatment for aHUS for many years until the introduction of therapies targeting blockage of the complement system. The aim of this study was to evaluate patients with aHUS who had been treated with plasma based therapies alone. Methods: the outcomes of seven genetically confirmed aHUS patients (2 girls, 5 males) were evaluated by means of clinical presentation, response to plasma therapy, course of the disease during the follow-up period and last status. Results: the median age of the patients at admission was 6.7 years (IQR 0.7-7.8). Three patients received plasma exchange therapy and the other four patients were treated with plasma infusions. One patient was lost to follow-up after one year; the median duration of follow-up for other patients was 3.7 years (IQR 2.7-6.5). During the follow up, two patients from our historical records when complement blocking therapies had not been in clinical use yet in Turkey, underwent kidney transplantation. One transplant patient experienced an acute rejection episode without graft loss. The remaining five patients had a glomerular filtration rate of more than 90 ml/min./1.73 m(2) at the last visit. Conclusion: although we had a relatively small patient population, our findings indicate that PT might still be considered in selected patients particularly in countries where complement blocking therapies are difficult to reach due to their unavailability or costs that are not covered by the health care systems., Hacettepe University Scientific Research and Development Office

Amaç: Bu çalışmada polikliniğimize başvuran juvenil sistemik lupus eritematozus (jSLE) tanılı hastaların; klinik ve laboratuvar bulguları geriye dönük araştırılarak, organ tutulum sıklığının, tedavi cevaplarının ve hastalık prognozunun belirlenmesi amaçlanmıştır. Gereç/Hastalar ve Yöntem: Polikliniğimize Mart/2016-Mart/2019 yılları arasında başvuran, 18 yaşından küçük ve SLE SLICC (Systemic Lupus International Collaborating Clinics) 2012 kriterlerine göre jSLE tanısı almış olgular değerlendirmeye alındı. Hastaların demografik özellikleri, klinik semptom ve şikayetleri, laboratuvar bulguları, renal biyopsi sonuçları, tedavileri ve prognoza ait verileri kaydedildi. Bulgular: Çalışma kapsamında 28 hasta (22 kız, 6 erkek) incelendi. Hastaların takip süresi ortalama 2 yıl 5 ay (min-maks: 6 ay-5 yıl 10 ay) olarak belirlendi.En sık görülen klinik semptom halsizlik (19 hasta, %67,9) olarak belirlendi. Yirmi hastada (%71,4) anemi saptandı. ANA ve anti-dsDNA pozitiflikleri çalışmamızda sırasıyla %92,9 ve %50 olarak tespit edildi. En sık görülen organ tutulumu renal tutulum olarak gözlendi (n: 16, %57,1). En çok uygulanan tedavinin hidroksiklorokin ve kortikosteroid olduğu saptandı. Hastaların son kontrolünde; 20 hasta (%89,2) komplet remisyonda, beş hasta (%17,8) parsiyel remisyonda iken; üç hastamızda kronik böbrek hastalığı gelişti. Tartışma ve Sonuç: Ülkemizden bildirilen çalışmalar incelendiğinde; jSLE hastaları açısından bölgesel farklılıklar olduğu görülmektedir. Çalışmamız Karadeniz Bölgesi'ndeki jSLE'li çocukların profillerini belirleme açısından yapılan ilk çalışmadır. İleride yapılacak çok merkezli çalışmalar ile jSLE hastalarının Türkiye'deki bölgesel profillerinin çıkarılması ve uygun tedavi stratejilerinin belirlenmesi önem arz etmektedir.Anahtar Kelimeler: Jüvenil Sistemik Lupus Eritematozus, pediatrik romatoloji, pediatrik nefroloji Objective: It was aimed to determine the frequency of organ involvement, treatment response and disease outcome by retrospectively investigating the clinical and laboratory findings of patients with juvenile systemic lupus erythematosus (jSLE) who were admitted to our outpatient clinic.Methods: Patients who were admitted to our outpatient clinic between March/2016 and March/2019, under the age of 18 and diagnosed as jSLE according to the criteria of SLE SLICC (Systemic Lupus International Collaborating Clinics) 2012 were evaluated. The data related to demographicscharacteristics, clinical symptoms andsigns, laboratory findings, renal biopsy results, treatments and prognosis of the patients were recorded.Results: Twenty-eight patients (22 girls, 6 boys) were investigated in the study. The average follow-up period was 2 years and 5 months (min-max: 6 months-5 years and 10 months). The most common clinical symptom was fatigue (19 patients, 67.9%). Twenty patients (71.4%) had anemia. ANA and anti-dsDNA positivity were detected as 92.9% and 50%, respectively. Renal involvement (n: 16; %57,1) was observed as the most common organ involvement. Hydroxiklorokin and corticosteroid were the most commonly used drugs. At the patient's final visits, while 20 patients (89.2%) were in complete remission and five (17.8%) were in partial remission; three patients had chronic kidney disease.Discussion and Conclusion: When the studies reported from our country are examined, it is seen that there are regional differences in terms of jSLE patients. This is the first study to determine the profiles of children with jSLE in the Black Sea region.Regarding to jSLE patients, defining the regional profiles in Turkey anddetermining the appropriate treatment strategiesin future multicenter studies is important.Keywords: Juvenile Systemic Lupus Erythematosus, pediatric rheumatology, pediatric nephrology 89