Fabry病一例报道并文献复习

目的：探讨Fabry 病的临床表现、诊断及鉴别诊断，提高临床医师对Fabry病的认识，降低漏诊率。方法：报道1例罕见的Fabry病肾损害，结合文献对该病的临床表现、诊断、鉴别诊断及治疗和预后进行探讨。结果：患者为中年男性，发病年龄为30岁，临床表现主要为肾脏损伤及周围神经病变，伴有尿毒症家族史，中性粒细胞测α-半乳糖苷酶示酶活性：0nmol/mg/hr，基因突变：p.H125T（c.373C>T），最终确诊Fabry病。患者曾至多家医院就诊，均未明确病因，漏诊率高。结论：Fabry病属于遗传性肾脏疾病，为临床罕见性疾病，容易漏诊，确诊需仔细的询问病史、肾脏病理检查、测定血清α-半乳糖苷酶水平及基因诊断。

A case report of Fabry disease and reviw of literature

Objective: To investigate the clinical manifestations, diagnosis and differential diagnosis of Fabry disease, to improve the understanding of Fabry disease and to reduce the rate of missed diagnosis. Methods: The clinical manifestations, diagnosis, differential diagnosis, treatment and prognosis were analyzed in one case of renal lesion of Fabry disease with review of the literature. Results: The age of the patient was a 30 years old man, and had a family history. The clinical manifestations were mainly kidney damage and peripheral neuropathy. The neutrophils measured alpha galactosidase enzyme activity showed: 0nmol/mg/hr, gene mutation: p.H125T (c.373C>T). Finally diagnosed as Fabry disease. The disease has not been diagnosed in a number of hospitals, with the high rate of misdiagnosis. Conclusion: Fabry disease is a rare hereditary disease, easily missed diagnosis, and the diagnosis should be careful about history, renal pathological examination, determination of serum alpha - galactose glucoside enzyme level and gene diagnosis.