title: The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study.
abstract: OBJECTIVE
  Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-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 α-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 Fabry 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.
authors.affiliation: Necmettin Erbakan University, Meram School of Medicine, Department of Internal Medicine, Division of Nephrology, Konya, Turkey.
authors.forename: Kultigin
authors.initials: K
authors.lastname: Turkmen
authors.forename: Aydın
authors.initials: A
authors.lastname: Guclu
authors.forename: Garip
authors.initials: G
authors.lastname: Sahin
authors.forename: Ismail
authors.initials: I
authors.lastname: Kocyigit
authors.forename: Levent
authors.initials: L
authors.lastname: Demirtas
authors.forename: Fatih Mehmet
authors.initials: FM
authors.lastname: Erdur
authors.forename: Erkan
authors.initials: E
authors.lastname: Sengül
authors.forename: Oktay
authors.initials: O
authors.lastname: Ozkan
authors.forename: Habib
authors.initials: H
authors.lastname: Emre
authors.forename: Faruk
authors.initials: F
authors.lastname: Turgut
authors.forename: Hilmi
authors.initials: H
authors.lastname: Unal
authors.forename: Murat
authors.initials: M
authors.lastname: Karaman
authors.forename: Cengiz
authors.initials: C
authors.lastname: Acıkel
authors.forename: Hasan
authors.initials: H
authors.lastname: Esen
authors.forename: Ebru
authors.initials: E
authors.lastname: Balli
authors.forename: Gulfidan
authors.initials: G
authors.lastname: Bıtırgen
authors.forename: Halil Zeki
authors.initials: HZ
authors.lastname: Tonbul
authors.forename: Mahmut Ilker
authors.initials: MI
authors.lastname: Yılmaz
authors.forename: Alberto
authors.initials: A
authors.lastname: Ortiz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D015995:Prevalence; D011446:Prospective Studies; D051436:Renal Insufficiency, Chronic / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy; D014421:Turkey / Q000453:epidemiology; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase