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

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dc.authoridTURGUT, FARUK/0000-0003-1910-7433
dc.authoridBalli, Ebru/0000-0002-9950-5548
dc.authoridKOCYIGIT, ISMAIL/0000-0002-6654-4727
dc.authoridTurkmen, Kultigin/0000-0002-1667-7716
dc.authoridOrtiz Arduan, Alberto/0000-0002-9805-9523
dc.contributor.authorTurkmen, Kultigin
dc.contributor.authorGuclu, Aydin
dc.contributor.authorSahin, Garip
dc.contributor.authorKocyigit, Ismail
dc.contributor.authorDemirtas, Levent
dc.contributor.authorErdur, Fatih Mehmet
dc.contributor.authorSengul, Erkan
dc.date.accessioned2024-09-18T20:08:26Z
dc.date.available2024-09-18T20:08:26Z
dc.date.issued2016
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractBackground/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, Baselen_US
dc.description.sponsorshipSanofi Genzyme Corporation; Intensificacion ISCIII and REDINREN [RD012/0021]en_US
dc.description.sponsorshipWe 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.en_US
dc.identifier.doi10.1159/000452605
dc.identifier.endpage1024en_US
dc.identifier.issn1420-4096
dc.identifier.issn1423-0143
dc.identifier.issue6en_US
dc.identifier.pmid28006774en_US
dc.identifier.scopus2-s2.0-85008613365en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1016en_US
dc.identifier.urihttps://doi.org/10.1159/000452605
dc.identifier.urihttps://hdl.handle.net/20.500.12483/8826
dc.identifier.volume41en_US
dc.identifier.wosWOS:000392937800028en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofKidney & Blood Pressure Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChronic kidney diseaseen_US
dc.subjectFabry diseaseen_US
dc.subjectAgalsidase therapyen_US
dc.subjectScreeningen_US
dc.subjectERBPen_US
dc.titleThe Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Studyen_US
dc.typeArticleen_US

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