Renal involvement in Fabry disease

Abstract Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders and renal involvement. Renal involvement occurs due to Gb3 accumulation in all types of renal cells. Therefore, patients may present glomerular and tubular function disorders. Podocytes are particularly affected, with pedicels effacement and development of proteinuria. The diagnosis is made by detection of reduced plasma or leukocyte α-galactosidase activity and genetic study for detecting the α-galactosidase gene mutation. Treatment with enzyme replacement contributes to delay the progression of kidney disease, especially if initiated early.

摘要 法布雷病（Fabry disease）由α-半乳糖苷酶A（α-galactosidase A）编码基因的突变所致，患者体内所有细胞均会出现球苷脂三糖酰基鞘氨醇（globotriaosylceramide，Gb3）蓄积，且该病属于性连锁遗传病。其主要临床特征包括：皮肤血管角皮瘤、肢端感觉异常与早发性卒中、出汗减少及耐热能力下降、眼部病变、心肌肥厚与心律失常、胃肠道紊乱及肾脏受累。肾脏受累源于各类肾细胞内Gb3蓄积，患者可出现肾小球与肾小管功能异常。足细胞尤其易受影响，表现为足突消失并引发蛋白尿。诊断可通过检测血浆或白细胞中降低的α-半乳糖苷酶A活性，以及开展针对α-半乳糖苷酶A编码基因突变的遗传学检测实现。酶替代治疗可延缓肾脏疾病的进展，早期启动治疗的获益尤为显著。