A Case of Fabry Disease Diagnosed by Molecular Analysis of alpha-galactosidase A Gene.
- Author:
Bum Sik CHIN
1
;
Jee In KIM
;
Jin Sung LEE
;
Soon Won HONG
;
Hyun Joo CHUNG
;
Hee Man KIM
;
Dong Ki KIM
;
Young Suck GOO
;
Ho Yung LEE
Author Information
1. Department of Internal Medicine, College of Medicine, Yonsei University, Seoul, Korea. hyl@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Fabry deisease;
DNA mutational analysis;
Proteinuria
- MeSH:
Adult;
alpha-Galactosidase*;
Body Temperature;
DNA Mutational Analysis;
Early Diagnosis;
Fabry Disease*;
Humans;
Mutation, Missense;
Polymerase Chain Reaction;
Proteinuria
- From:Korean Journal of Nephrology
2002;21(6):1015-1019
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Fabry disease is a X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. This abnormality in enzyme results intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. We report a 35 year-old man who had been suffered from acroparesthesia aggravated by body temperature elevation and with asymptomatic renal function impairment, which were proven to be due to Fabry disease. We performed gene analysis by PCR direct sequencing and confirmed missense mutation of GLA gene. Recently enzyme replacement of alpha-galactosidase was introduced and we think that the importance of early diagnosis and treatment should be emphasized.
