依靠肾活检确诊的以肾脏病变为主要表现的法布里病1例报告

Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy:a case report

法布里病(Fabry disease,FD)是一种X染色体连锁隐性遗传性疾病,主要由于半乳糖苷酶A(galactosidase A,GLA)基因突变,导致其编码的α-GLA活性下降或丧失,最终引起其代谢底物沉积于多个器官而致病,肾脏和心脏是两大最主要的受累器官。既往所报道的FD患者一般依据明确的家族史且合并致病基因突变而被明确作诊断。本文报道一例肾小球肾炎为主要表现的FD患者,外显子测序结果未见GLA相关基因突变,但肾脏病理活检发现肾小管上皮细胞细胞质内有典型的髓样小体,结合患者α-GLA活性下降,为26.2 nmol/(mL·h·m)[参考值>37 nmol/(m L·h·m)],故而确诊。本病例提示肾脏病理检查在该病诊断中的作用。

Fabry′s disease is an X-linked recessive genetic disease,which is mainly due to the mutation of(galactosidase A,GLA)gene.The decrease or loss of GLA activity eventually leads to the deposition of its metabolic substrate in multiple organs of the body,in which the kidney and heart are the two main affected organs.This paper reports a case of Fabry disease without gene mutation and diagnosed by renal biopsy and derease of GLA activity[26.2 nmol/(mL·h·m)][reference value:>37 nmol/(mL·h·m)],clarifying the role of renal pathology in the diagnosis of the disease.