Fabry Disease Prevalence in Renal Replacement Therapy in Turkey.
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Yalın Serkan Feyyaz, Eren Necmi, Sinangil Ayse, Yilmaz Vural Taner, Tatar Erhan, Ucar Ali Riza, Sevinc Mustafa, Can Özgür, Gurkan Alp, Arik Nurol, Alisir Ecder Sabahat, Uyar Murathan, Yasar Murat, Gulcicek Sibel, Mese Meral, Dheir Hamad, Cakir Ulkem, Köksal Cevher Şimal, Turkmen Kultigin, Guven Bahtisen, Guven Taymez Dilek, Erkalma Senates Banu, Ecder Tevfik, Kocak Huseyin, Uslu Adam, Demir Erol, Basturk Taner, Ogutmen Melike Betul, Kinalp Can, Dursun Belda, Bicik Bahcebasi Zerrin, Sipahi Savas, Dede Fatih, Oruc Meric, Caliskan Yasar, Genc Ahmed, Yelken Berna, Altıparmak Mehmet Rıza, Turkmen Aydin, Seyahi Nurhan
Аннотация
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.