유전자분석과 신장 조직검사를 통해 진단된 Fabry 병 2예
Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the α-Galactosidase A Gene and Kidney Biopsy
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초록
Fabry 병은 α-galactosidase A의 결핍으로 세포 내 리소좀(lysosome)에 globotriaosylceramide (Gb3)가 축적되는 질환이다. 이 질환은 반성 열성으로 유전되는 특징이 있고, 1898년Fabry와 Anderson에 의해 처음 기술되었다. 임상 증상은 사지의 통증, 피부질환, 무한증, 심혈관계, 뇌혈관계, 신장 혈관장애를 동반한다. 진단은 말초혈액 내 α-galactosidase A 활성도 감소와 조직검사를 통해 확진된다. 저자들은 단백뇨와 현미경적 혈뇨가 있고 Fabry 병의 가족력이 있는 자매에서 α-galactosidase A 유전자 분석과 신장조직검사를 통해 진단된 Fabry 병 2예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.
Abstract
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, which results in the intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. We report 52- and 55-year-old women with proteinuria and hematuria that were proven to be due to Fabry disease. A gene analysis using PCR direct sequencing confirmed a missense mutation of the GLA (α -galactosidase A) gene. Electron microscopy of a kidney biopsy showed lamella inclusion bodies, which are typical findings of Fabry disease. The patients were treated with enzyme replacement therapy as outpatients. They had a reduction in proteinuria and normal renal function.
참고문헌 (10)
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