Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.
OBJECTIVE
Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease.


METHODS
The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h.


RESULTS
A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m2, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female).


CONCLUSIONS
Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.
a Department of Internal Medicine, Division of Nephrology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Yavuz
Y
Yeniçerioğlu
a Department of Internal Medicine, Division of Nephrology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Hakan
H
Akdam
b Department of Internal Medicine, Division of Nephrology , Pamukkale University School of Medicine , Denizli , Turkey.
Belda
B
Dursun
a Department of Internal Medicine, Division of Nephrology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Alper
A
Alp
c Aydın State Hospital Nephrology , Aydın , Turkey.
Funda
F
Sağlam Eyiler
d Denizli State Hospital Nephrology , Denizli , Turkey.
Davut
D
Akın
c Aydın State Hospital Nephrology , Aydın , Turkey.
Yelda
Y
Gün
e Department of Nephrology , Muğla Sıtkı Koçman University Education and Research Hospital , Muğla , Turkey.
Bülent
B
Hüddam
d Denizli State Hospital Nephrology , Denizli , Turkey.
Mehmet
M
Batmazoğlu
e Department of Nephrology , Muğla Sıtkı Koçman University Education and Research Hospital , Muğla , Turkey.
Dilek
D
Gibyeli Genek
f Department of Public Health , Adnan Menderes University School of Medicine , Aydın , Turkey.
Serhat
S
Pirinççi
g Department of Nephrology, İzmir Katip Çelebi University Education and Research Hospital , İzmir , Turkey.
İsmail Rıfkı
İR
Ersoy
g Department of Nephrology, İzmir Katip Çelebi University Education and Research Hospital , İzmir , Turkey.
Atilla
A
Üzüm
g Department of Nephrology, İzmir Katip Çelebi University Education and Research Hospital , İzmir , Turkey.
Zeki
Z
Soypaçacı
h Department of Nephrology , İzmir Tepecik Education and Research Hospital Internal Medicine , İzmir , Turkey.
Mehmet
M
Tanrısev
h Department of Nephrology , İzmir Tepecik Education and Research Hospital Internal Medicine , İzmir , Turkey.
Hülya
H
Çolak
h Department of Nephrology , İzmir Tepecik Education and Research Hospital Internal Medicine , İzmir , Turkey.
Sibel
S
Demiral Sezer
i Department of Genetics , Adnan Menderes University School of Medicine , Aydın , Turkey.
Gökay
G
Bozkurt
j Department of Neurology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Utku Oğan
UO
Akyıldız
k Department of Ophthalmology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Ayşe İpek
Aİ
Akyüz Ünsal
l Department of Internal Medicine, Division of Endocrinology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Mustafa
M
Ünübol
m Department of Dermatology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Meltem
M
Uslu
n Department of Cardiology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Ufuk
U
Eryılmaz
o Department of Otorhinolaryngology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Ceren
C
Günel
p Department of Pathology , Adnan Menderes University School of Medicine , Aydın , Turkey.
İbrahim
İ
Meteoğlu
q Department of Internal Medicine, Division of Hematology , Adnan Menderes University School of Medicine , Aydın , Turkey.
İrfan
İ
Yavaşoğlu
r Department of Radiology , Adnan Menderes University School of Medicine , Aydın , Turkey.
Alparslan
A
Ünsal
h Department of Nephrology , İzmir Tepecik Education and Research Hospital Internal Medicine , İzmir , Turkey.
Harun
H
Akar
f Department of Public Health , Adnan Menderes University School of Medicine , Aydın , Turkey.
Pınar
P
Okyay
D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D000795:Fabry Disease / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology*; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D010375:Pedigree; D011507:Proteinuria / Q000453:epidemiology*; D051436:Renal Insufficiency, Chronic / Q000150:complications*; D014421:Turkey; D000519:alpha-Galactosidase / Q000097:blood* / Q000235:genetics
D000519:alpha-Galactosidase
Fabry’s disease; chronic kidney disease; globotriaosylceramide; lysosomal storage; α-galactosidase A