Significance of screening for Fabry disease among male dialysis patients

被引：52

作者：

Ichinose M. ^{[1
]}

Nakayama M. ^{[2
]}

Ohashi T. ^{[3
]}

Utsunomiya Y. ^{[1
]}

Kobayashi M. ^{[4
]}

Eto Y. ^{[4
]}

机构：

[1] Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Minato-ku, Tokyo 105-8461

[2] Research Division of Dialysis and Chronic Kidney Disease, Tohoku University, Graduate School of Medicine, Sendai

[3] Department of Gene Therapy, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo

[4] Department of Pediatrics, Jikei University, School of Medicine, Tokyo

来源：

Clinical and Experimental Nephrology | 2005年 / 9卷 / 3期

关键词：

α-Galactosidase A(α-Gal A); Dialysis; Fabry disease; Renal variant;

D O I：

10.1007/s10157-005-0369-4

中图分类号：

学科分类号：

摘要：

Background. Fabry disease is an X-linked disorder resulting from a deficiency of the lysosomal enzyme alpha-galactosidase A(α-Gal A). Renal insufficiency is a very important manifestation and affects the prognosis of patients. Recently, a renal variant type that is characterized by low plasma α-Gal A activity and a milder phenotype, but which progresses to end-stage renal failure, has been reported. In this study, we clarified the incidence of this atypical variant of Fabry disease in hemodialysis patients. Methods. We measured plasma α-Gal A activity in 450 male dialysis patients who had never been diagnosed with Fabry disease. Results. The mean of the α-Gal A activity of the patients was 9.75 ± 3.20 nmol/h/ml, while the controls with classical Fabry (n = 3) were 0.52-1.04 nmol/h/ml. Among the patients, one patient was found to exhibit low α-Gal A activity in plasma (3.18 nmol/h/ml) and in leukocytes (0.639 nmol/h/mg). This patient was a 43-year-old Japanese man who had been on regular dialysis since the age of 23. He did not present typical clinical signs of classical Fabry, such as acroparesthesias or hypohidrosis, but did present renal insufficiency and severe left ventricular hypertrophy which had developed only recently, suggesting a variant form of Fabry disease. Sequencing of the DNA of this patient revealed a deletion of a single amino acid of valine in 10252. Conclusions. A case of an atypical variant of Fabry among 450 male dialysis patients (0.22%) was found in the survey. This indicates the potential for undiagnosed Fabry disease among dialysis patients. The results of this study indicate the significance of screening for Fabry disease among male dialysis patients. © Japanese Society of Nephrology 2005.

引用

页码：228 / 232

页数：4

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