The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

WOS: 000392937800028PubMed ID: 28006774Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of a-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed a-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males) of 313 CKD patients (0.95%) were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%), tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%), heat intolerance (71%), and abdominal pain (57%). The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%). Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fa bry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin. (C) 2016 The Author(s) Published by S. Karger AG, BaselSanofi Genzyme Corporation; Intensificacion ISCIII and REDINREN [RD012/0021]We are indebted to our patients and their families for volunteering to contribute their medical information to the physicians who are dedicated to their care. This work was supported by grants from Sanofi Genzyme Corporation. The lead investigator had full access to all data in the study. All investigators take responsibility for the accuracy of the individual data that they entered in the system provided by FMF Arthritis Vasculitis and Orphan disease Research (FAVOR). AO was supported by Intensificacion ISCIII and REDINREN RD012/0021

Renal transplant results of the organ transplant center of meram medical school between 2003-2011

AMAÇ: Son dönem böbrek yetmezliği (SDBY) hastalarında en iyi tedavi şekli böbrek naklidir. Çalışmamızda, son 8 yılda merkezimizde kadavra ve canlıdan yapılan böbrek nakillerinin(BN) demografik verileri ile birlikte böbrek fonksiyonları ve posttransplant medikal komplikasyonları, hasta- graft sağkalımını araştırmayı hedefledik. GEREÇ ve YÖNTEMLER: Çalışmaya 40ı kadavradan, 26sı canlıdan BN yapılan 66 hasta (kadın/ erkek: 36/30) dahil edildi. Nakil sonrası nefroloji polikliniğine başvurularda yaş, cinsiyet, böbrek yetmezliği nedeni, diyaliz türü-süresi, nakil türü, aldıkları indüksiyon tedavileri, kullandığı idame immünsupresif tedaviler, akut rejeksiyon sayısı ve verilen tedaviler, nakil sonrası 1., 6., 12., 24. ve 60. aylardaki biyokimya-hemogram parametreleri ve medikal komplikasyonlar hasta dosyalarından retrospektif olarak elde edildi. BULGULAR: Alıcıların ortalama yaşı 4111,6 yıldı. Ortalama nakil sonrası süre 32,231,4 ay, kreatinin değerleri 1,40,9 mg/dl tespit edildi. En sık uygulanan immünsüpresif tedavi protokolü ko rtikosteroidtakrolimusmikofenolat mofetil/sodyumdu. Gecikmiş graft fonksiyonu, kronik allograft disfonksiyonu ve akut rejeksiyon oranları sırasıyla %27,3, %25,7 ve %13,6 idi. 1 ve 5 yıllık hasta sağkalımı canlıdan yapılan BNlerinde sırasıyla %100 ve %100, kadavradan yapılan BNlerinde ise %85 ve %85 olarak bulundu. 1 ve 5 yıllık graft sağkalımı canlıdan BN yapılanlarda sırasıyla %100 ve %100, kadavradan BN yapılanlarda ise %80 ve %80 olarak saptandı. En sık görülen medikal komplikasyonlar yeni gelişen diyabet ve dislipidemiydi. Erken ve geç dönemde en sık karşılaşılan enfeksiyon idrar yolu enfeksiyonuydu. SONUÇ: BN, hasta-graft sağkalımının yüksek olduğu bir renal replasman tedavi seçeneğidir. Bununla birlikte metabolik komplikasyonlar açısından yakın takip gereklidir.OBJECTIVE: Renal transplantation (RTx) is the best therapeutic modality for end-stage renal disease patients. We report 8 years single-centre experience on cadaveric and living donor RTx in terms of demographic features along with graft functions, posttransplant medical complications, patients-graft survivals. MATERIAL and METHODS: We enrolled 66 RTx (female/male: 36/30) patients including 40 cadaveric and 26 living donors. At admission age, gender, causes of renal failure, dialysis type- duration, type of RTx, induction and maintenance immunosuppressive modalities, rejection episodes, biochemistry-hemogram parameters at 1, 6, 12, 24 and 60 months after transplantation and medical complications were obtained from the medical records. RESULTS: Mean recipient age was 41±11.6 years. Mean transplant duration was 32.2±31.4 months, and the mean creatinine values was 1.4±0.9 mg/dl. The most commonly used immunosuppressive protocol was corticosteroidtacrolimusmycophenolate mofetil. Delayed graft function, chronic allograft nephropathy and acute rejection were observed in 27.3%, 25.7% and 13.6% of patients, respectively. 1- and 5-year patient survival rates were 100% and 100% for living donor patients and 85% and 85% for cadaveric patients, respectively. 1- and 5-year graft survival rates were 100% and 100% for living donor RTx patients, and 80% and 80% for cadaveric RTx patients, respectively. The most common medical complications were new onset diabetes mellitus and dyslipidemiaThe most common early and late infection was urinary tract infection. CONCLUSION: RTx is the best renal replacement therapy in terms of patient-graft survival. However, patients should be closely moniterized for metabolic complications

The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males) of 313 CKD patients (0.95%) were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%), tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%), heat intolerance (71%), and abdominal pain (57%). The most frequent manifestations in female patients were fatigue and cornea verticillata (50%), and tinnitus, vertigo and angiokeratoma (25%). Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fabry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin