Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G>T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF.
Division of Nephrology, Department of Internal Medicine, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
Can
C
Huzmeli
Division of Nephrology, Department of Internal Medicine, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
Ferhan
F
Candan
Division of Pediatric Nephrology, Department of Pediatrics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
Demet
D
Alaygut
Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey. gokhanbagci@hotmail.com.tr.
Gokhan
G
Bagci
Division of Nephrology, Department of Internal Medicine, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
Lale
L
Akkaya
Department of Nutrition and Dietetics, Faculty of Health Sciences, Cumhuriyet University, Sivas, Turkey.
Binnur
B
Bagci
Department of Medical Biochemistry, Faculty of Medicine, Ege University, Izmir, Turkey.
Eser Yıldırım
EY
Sozmen
Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
Hande Kucuk
HK
Kurtulgan
Division of Nephrology, Department of Internal Medicine, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
Mansur
M
Kayatas
D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000453:epidemiology* / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D015995:Prevalence; D000071198:Pyrin / Q000235:genetics; D014421:Turkey / Q000453:epidemiology; D000519:alpha-Galactosidase / Q000235:genetics*
C000604192:MEFV protein, human; D000071198:Pyrin; C576330:GLA protein, human; D000519:alpha-Galactosidase
Alpha-galactosidase; D313Y; FMF; Fabry disease; GLA; MEFV