摘要
法布瑞氏症是一種罕見的染色體性聯遺傳隱性疾病（X-linked recessive），因α－半乳糖甘酶（α-galactosidase, α-GAL）缺乏，導致糖脂質globotriaosylceramide（Gb3）堆積於全身器官而致病。因為臨床表現分歧，早期很難被發現或診斷出來。研究顯示透析的病人有很高的比例罹患法布瑞氏症，此外對於不明原因左心室肥大與慢性腎臟疾病及早年發生腦中風都屬於高危險群。近期本院研究團隊發現，在男性不明原因之慢性腎臟病人中罹患法布瑞氏症的比例高達0.59%。若能及早診斷與治療，可降低併發症的發生。
並列摘要
Fabry disease is a rare X-linked recessive genetic disease due to lack of α-galactosidase (α-GAL) enzyme, causing the accumulation of globotriaosylceramide (Gb3) in virtually all cell types and organs. It results in the development of a multisystem disorder. It is difficult to get definite diagnosis in the early stages. Past studies have shown that patients on dialysis are at high risk of Fabry disease. Moreover, patients with unexplained left ventricular hypertrophy, chronic kidney disease and early stroke are also regarded as high risk groups. Our recent screening results showed the incidence of Fabry disease in chronic kidney disease patients with unknown etiology was as high as 0.59%. Early effective enzyme replacement therapy treatment not only improve clinical outcomes but also prolongs life expectancy in patients with Fabry disease.
被引用紀錄
延伸閱讀
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