Fabry Disease Prevalence in Renal Replacement Therapy in Turkey.

Autor:	Yalın SF; Department of Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Eren N; Department of Nephrology, Kocaeli University Medical Faculty, Kocaeli, Turkey., Sinangil A; Department of Nephrology, Bilim University Medical Faculty Medical, Istanbul, Turkey., Yilmaz VT; Division of Nephrology, Akdeniz University Medical Faculty, Antalya, Turkey., Tatar E; Department of Nephrology, Bozyaka Training and Research Hospital, Izmir, Turkey., Ucar AR; Division of Nephrology, Istanbul University, Faculty of Medicine, Istanbul, Turkey., Sevinc M; Department of Nephrology, Şişli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey., Can Ö; Department of Nephrology, Haydarpasa Training and Research Hospital, Istanbul, Turkey., Gurkan A; Department of Nephrology, Medicana, Istanbul, Turkey., Arik N; Department of Nephrology, Ondokuz Mayis University Medical Faculty, Samsun, Turkey., Alisir Ecder S; Division of Nephrology, Medeniyet University Goztepe Training and Research Hospital, Istanbul, Turkey., Uyar M; Department of Nephrology, Gaziosmanpasa Hospital, Istanbul, Turkey., Yasar M; Department of Nephrology, Pamukkale University Medical Faculty, Denizli, Turkey., Gulcicek S; Department of Nephrology, Istanbul Training and Research Hospital, Istanbul, Turkey., Mese M; Department of Nephrology, Dr. Lufti Kirdar Kartal Training and Research Hospital, Istanbul, Turkey., Dheir H; Department of Nephrology, Sakarya University Tip Medical Faculty, Sakarya, Turkey., Cakir U; Department of Nephrology, Acibadem University Medical Faculty, Istanbul, Turkey., Köksal Cevher Ş; Department of Nephrology, Ankara Training and Research Hospital, Ankara, Turkey., Turkmen K; Division of Nephrology, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey., Guven B; Department of Nephrology, Bahcesehir University Medical Faculty, Istanbul, Turkey., Guven Taymez D; Department of Nephrology, Kocaeli State Hospital, Kocaeli, Turkey., Erkalma Senates B; Department of Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Ecder T; Department of Nephrology, Bilim University Medical Faculty Medical, Istanbul, Turkey., Kocak H; Division of Nephrology, Akdeniz University Medical Faculty, Antalya, Turkey., Uslu A; Department of Nephrology, Bozyaka Training and Research Hospital, Izmir, Turkey., Demir E; Division of Nephrology, Istanbul University, Faculty of Medicine, Istanbul, Turkey., Basturk T; Department of Nephrology, Şişli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey., Ogutmen MB; Department of Nephrology, Haydarpasa Training and Research Hospital, Istanbul, Turkey., Kinalp C; Department of Nephrology, Medicana, Istanbul, Turkey., Dursun B; Department of Nephrology, Pamukkale University Medical Faculty, Denizli, Turkey., Bicik Bahcebasi Z; Department of Nephrology, Dr. Lufti Kirdar Kartal Training and Research Hospital, Istanbul, Turkey., Sipahi S; Department of Nephrology, Sakarya University Tip Medical Faculty, Sakarya, Turkey., Dede F; Department of Nephrology, Ankara Training and Research Hospital, Ankara, Turkey., Oruc M; Department of Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Caliskan Y; Division of Nephrology, Istanbul University, Faculty of Medicine, Istanbul, Turkey., Genc A; Department of Nephrology, Sakarya University Tip Medical Faculty, Sakarya, Turkey., Yelken B; Department of Nephrology, Memorial Hospital, Istanbul, Turkey., Altıparmak MR; Department of Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey., Turkmen A; Division of Nephrology, Istanbul University, Faculty of Medicine, Istanbul, Turkey., Seyahi N; Department of Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey, nseyahi@yahoo.com.
Jazyk:	angličtina
Zdroj:	Nephron [Nephron] 2019; Vol. 142 (1), pp. 26-33. Date of Electronic Publication: 2019 Feb 08.
DOI:	10.1159/000496620
Abstrakt:	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. (© 2019 S. Karger AG, Basel.)
Databáze:	MEDLINE
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