Von Hippel—Lindau综合征的临诊应对

Approach to the patients with von Hippel-Lindau syndrome

Von Hippel-Lindau（VHL）综合征是一种常染色体显性遗传的家族性多系统肿瘤综合征，为VHL基因突变或缺失所致。本文通过对1例VHL综合征患者的临床特点进行分析，并就该病发病机制、临床表现、基因诊断以及治疗的国内外研究进展进行讨论，以加深临床医师对本病的认识。

Von Hippel-Lindau（VHL）syndrome is an autosomal-dominant hereditary cancer syndrome caused by germline mutations or deletions in the VHL gene. We present a case with VHL syndrome, regarding the pathogenesis, clinical manifestation, genetic diagnosis and treatment, so as to help further understand this syndrome.