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The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study    
Yazarlar (19)
KÜLTİGİN TÜRKMEN
Prof. Dr. Aydın GÜÇLÜ Prof. Dr. Aydın GÜÇLÜ
Kırşehir Ahi Evran Üniversitesi, Türkiye
GARİP ŞAHİN
İSMAİL KOÇYİĞİT
LEVENT DEMİRTAŞ
FATİH MEHMET ERDUR
ERKAN ŞENGÜL
OKTAY ÖZKAN
HABİB EMRE
FARUK TURGUT
HİLMİ UMUT ÜNAL
MURAT KARAMAN
CENGİZ AÇIKEL
HASAN ESEN
EBRU BALLI
GÜLFİDAN BİTİRGEN
HALİL ZEKİ TONBUL
MAHMUT İLKER YILMAZ
ALBERTO ORTIZO
Devamını Göster
Özet
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. 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. 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. 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.
Anahtar Kelimeler
Chronic kidney disease | Fabry disease | Agalsidase therapy | Screening | ERBP
Makale Türü Özgün Makale
Makale Alt Türü SSCI, AHCI, SCI, SCI-Exp dergilerinde yayımlanan tam makale
Dergi Adı Kidney and Blood Pressure Research
Dergi ISSN 1420-4096
Dergi Tarandığı Indeksler SCI
Dergi Grubu Q4
Makale Dili İngilizce
Basım Tarihi 12-2016
Cilt No 41
Sayı 6
Sayfalar 1016 / 1024
Doi Numarası 10.1159/000452605
Makale Linki https://www.karger.com/?doi=10.1159/000452605