유전자분석과 신장 조직검사를 통해 진단된 Fabry 병 2예

• Published in: The Korean journal of medicine Vol. 89; no. 5; pp. 571 - 575
• Main Authors: 윤규태, Kyu Tae Yoon, 장영환, Young Hwan Jang, 이선효, Sun Hyo Lee, 이지혜, Ji Hye Lee, 양종오, Jong Oh Yang, 이은영, Eun Young Lee, 홍세용, Sae Yong Hong
• Format: Journal Article
• Language: Korean
• Published: 대한내과학회 30.11.2015
• Subjects: Fabry disease; Proteinuria; α-galactosidase A; 내과학; 단백뇨; 알파 갈락토시데이즈; 파브리병
• ISSN: 1738-9364; 2289-0769
• DOI: 10.3904/kjm.2015.89.5.571

본 증례는 단백뇨와 현미경적 혈뇨가 있고 Fabry 병의 가족력이 있는 여자 환자에서 α-galactosidase A 유전자 분석과 신장 조직검사를 통해 진단된 Fabry 병 2예를 경험하였기에 문헌고찰과 함께 보고하는 바이다. 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. (Korean J Med 2015,89:571-575)