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

Autor: Erkan Sengul, Halil Zeki Tonbul, Levent Demirtas, Alberto Ortiz, Kultigin Turkmen, Hasan Esen, Aydın Güçlü, Oktay Ozkan, Cengiz Han Açikel, Mahmut Ilker Yilmaz, Fatih Mehmet Erdur, Habib Emre, Garip Sahin, Ismail Kocyigit, Ebru Balli, Gulfidan Bıtırgen, Hilmi Umut Unal, Faruk Turgut, Murat Karaman
Přispěvatelé: Kırşehir Ahi Evran Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri, Nefroloji ABD
Rok vydání: 2016
Předmět:
Adult
Male
0301 basic medicine
lcsh:Diseases of the circulatory (Cardiovascular) system
Pathology
medicine.medical_specialty
Adolescent
Turkey
DNA Mutational Analysis
MEDLINE
lcsh:RC870-923
urologic and male genital diseases
03 medical and health sciences
Chronic kidney disease
Internal medicine
Prevalence
lcsh:Dermatology
medicine
Humans
Mass Screening
In patient
Prospective Studies
Renal Insufficiency
Chronic
Prospective cohort study
Mass screening
Aged
Fabry disease
Alpha-galactosidase
biology
business.industry
General Medicine
Middle Aged
lcsh:RL1-803
lcsh:Diseases of the genitourinary system. Urology
medicine.disease
030104 developmental biology
lcsh:RC666-701
Nephrology
alpha-Galactosidase
ERBP
Screening
biology.protein
Female
Agalsidase therapy
Cardiology and Cardiovascular Medicine
business
Kidney disease
Zdroj: Kidney & Blood Pressure Research, Vol 41, Iss 6, Pp 1016-1024 (2016)
ISSN: 1423-0143
1420-4096
DOI: 10.1159/000452605
Popis: WOS: 000392937800028 PubMed ID: 28006774 Background/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, Basel Sanofi Genzyme Corporation; Intensificacion ISCIII and REDINREN [RD012/0021] We 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.
Databáze: OpenAIRE
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