Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease. (C) 2019 S. Karger AG, BaselC1 [Yalin, Serkan Feyyaz; Senates, Banu Erkalma; Oruc, Meric; Altiparmak, Mehmet Riza; Seyahi, Nurhan] Istanbul Univ Cerrahpasa, Cerrahpasa Med Fac, Dept Nephrol, Istanbul, Turkey.[Eren, Necmi] Kocaeli Univ, Dept Nephrol, Med Fac, Kocaeli, Turkey.[Sinangil, Ayse; Ecder, Tevfik] Bilim Univ, Dept Nephrol, Med Fac Med, Istanbul, Turkey.[Yilmaz, Vural Taner; Kocak, Huseyin] Akdeniz Univ, Div Nephrol, Med Fac, Antalya, Turkey.[Tatar, Erhan; Uslu, Adam] Bozyaka Training & Res Hosp, Dept Nephrol, Izmir, Turkey.[Ucarf, Ali Riza; Demir, Erol; Caliskan, Yasar; Turkmen, Aydin] Istanbul Univ, Fac Med, Div Nephrol, Istanbul, Turkey.[Sevinc, Mustafa; Basturk, Taner] Sisli Hamidiye Etfal Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Can, Ozgur; Ogutmen, Melike Betul] Haydarpasa Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Gurkan, Alp; Kinalp, Can] Medicana, Dept Nephrol, Istanbul, Turkey.[Arik, Nurol] Ondokuz Mayis Univ, Dept Nephrol, Med Fac, Samsun, Turkey.[Ecder, Sabahat Alisir] Medeniyet Univ, Div Nephrol, Goztepe Training & Res Hosp, Istanbul, Turkey.[Uyar, Murathan] Gaziosmanpasa Hosp, Dept Nephrol, Istanbul, Turkey.[Yasar, Murat; Dursun, Belda] Pamukkale Univ, Dept Nephrol, Med Fac, Denizli, Turkey.[Gulcicek, Sibel] Istanbul Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Mese, Meral; Bahcebasi, Zerrin Bicik] Dr Lufti Kirdar Kartal Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Dheir, Hamad; Sipahi, Savas; Genc, Ahmed] Sakarya Univ, Dept Nephrol, Tip Med Fac, Sakarya, Turkey.[Cakir, Ulkem] Acibadem Univ, Dept Nephrol, Med Fac, Istanbul, Turkey.[Cevher, Simal Koksal; Dede, Fatih] Ankara Numune Training & Res Hosp, Dept Nephrol, Ankara, Turkey.[Turkmen, Kultigin] Necmettin Erbakan Univ, Div Nephrol, Meram Med Fac, Konya, Turkey.[Guven, Bahtisen] Bahcesehir Univ, Dept Nephrol, Med Fac, Istanbul, Turkey.[Taymez, Dilek Guven] Kocaeli State Hosp, Dept Nephrol, Kocaeli, Turkey.[Yelken, Berna] Mem Hosp, Dept Nephrol, Istanbul, Turkey