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Published on: June 16, 2014
Screening of Fabry disease in patients with chronic kidney disease in Japan
Akiko Nagata1, Makoto Nasu1, Yusuke Kaida1
1Department of Medicine, Division of Nephrology, Kurume University School of Medicine, Fukuoka, Japan.
Insights
Fabry disease (FD) is more prevalent in male patients with chronic kidney disease (CKD) Stages 1-5 than in those on haemodialysis. Early FD screening in CKD patients may improve survival and reduce progression to end-stage kidney disease.
Area of Science:
- Nephrology
- Genetics
- Biochemistry
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder caused by alpha-galactosidase A (α-Gal A) deficiency due to GLA gene mutations.
- Prevalence of FD is known in dialysis patients but unknown in earlier stages of chronic kidney disease (CKD).
Purpose of the Study:
- To determine the prevalence of Fabry disease in male patients across different stages of chronic kidney disease.
- To investigate the correlation between serum α-Gal A activity and confounding factors in CKD patients.
Main Methods:
- Screening for FD using serum α-Gal A activity analysis and GLA gene sequencing in 2122 male CKD patients.
- Included 1703 patients with CKD Stage 5D (on dialysis) and 419 with CKD Stages 1-5.
- Evaluated correlations between serum α-Gal A activity and clinical factors in CKD Stages 1-5.
Main Results:
- FD prevalence was 0.06% in CKD Stage 5D and 0.48% in CKD Stages 1-5.
- Identified novel and known GLA mutations, including p.Met208Arg, c.370delG, and p.Met296Ile.
- Serum α-Gal A activity inversely correlated with age and directly correlated with estimated glomerular filtration rate in CKD Stages 1-5.
Conclusions:
- FD prevalence is significantly higher in male patients with earlier stages of CKD compared to those on dialysis.
- Screening for FD in CKD Stages 1-5 could lead to improved patient outcomes and potentially decrease the incidence of CKD Stage 5D.
Background:
Fabry disease (FD), an X-linked lysosomal storage disorder caused by a deficiency in alfa-galactosidase A (α-Gal A) activity due to mutations in the GLA gene, has a prevalence of 0-1.69% in patients undergoing haemodialysis; however, its prevalence in patients with chronic kidney disease (CKD) Stages 1-5 is unknown.
Methods:
Serum α-Gal A activity analysis and direct sequencing of GLA were used to screen for FD in 2122 male patients with CKD, including 1703 patients with CKD Stage 5D and 419 with CKD Stages 1-5. The correlation between serum α-Gal A activity and confounding factors in patients with CKD Stages 1-5 was evaluated.
Results:
FD prevalence rates in patients with CKD Stage 5D and CKD Stages 1-5 were 0.06% (1/1703) and 0.48% (2/419), respectively. A patient with CKD Stage 5D exhibited a novel GLA mutation, p.Met208Arg, whereas two patients with CKD Stages 1-5 had c.370delG and p.Met296Ile. p. Met208Arg caused moderate structural changes in the molecular surface region near the substituted amino acid residue but did not affect the catalytic residues Asp170 and Asp231 in α-Gal A. Serum α-Gal A activity in patients with CKD Stages 1-5 was inversely correlated with age (P < 0.0001) but directly correlated with estimated glomerular filtration rate (P < 0.0001).
Conclusions:
FD prevalence was much higher in male patients with CKD Stages 1-5 than in those with CKD Stage 5D. FD screening in patients with CKD Stages 1-5 may improve patient survival, decreasing the number of patients with CKD Stage 5D.
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