Document Detail

The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.
MedLine Citation:
PMID:  22874111     Owner:  NLM     Status:  In-Data-Review    
Fabry disease (FD) is an Xlinked disorder resulting in a deficiency in α-galactosidase A (α-Gal) activity. FD is one of the causes of progressive renal dysfunction, but its diagnosis is often delayed or missed completely. We herein report the case of a 70-year-old male who had been receiving hemodialysis (HD) for 23 y who was diagnosed with FD after his participation in a screening program for plasma α-Gal activity for 892 HD patients. He had a low plasma α-Gal activity level and was demonstrated to have an E66Q mutation in exon 2 of the α-Gal gene. One of his daughters had the same mutation. The proband died due to aspiration pneumonia before receiving enzyme replacement therapy. We reviewed previous studies and found E66Q mutation in 36% of Japanese FD patients on HD including the present case. The clinical characteristics of E66Q variant are also discussed.
Y Kikumoto; H Sugiyama; H Morinaga; T Inoue; K Takiue; M Kitagawa; D Saito; Y Takatori; M Kinomura; S Kitamura; S Akagi; K Sada; K Nakao; Y Maeshima; H Kitayama; H Makino
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical nephrology     Volume:  78     ISSN:  0301-0430     ISO Abbreviation:  Clin. Nephrol.     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-08-09     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0364441     Medline TA:  Clin Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  224-9     Citation Subset:  IM    
Department of Medicine and Clinical Science, Center for Chronic Kidney Disease and Peritoneal Dialysis, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, and Division of Internal Medicine, Takahashi Central Hospital, Takahashi, Japan.
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