目的　探讨儿童肝豆状核变性 (HLD)以肾脏损害为首发表现的临床特征。方法　回顾 5 4例伴肾脏损害的HLD ,对其中的 15例以肾脏损害为首发表现的HLD进行临床分析。结果　以肾损害为首发表现的HLD占 2 7.7% ,临床主要表现为浮肿、少尿、肉眼血尿及尿常规检查异常。结论　HLD患儿肾脏受损的表现可发生在肝脏损害和神经系统损害症状出现之前 ,临床容易误诊。 Objective To investigate the clinical features of hepatolenticular degeneration (HLD) in children with kidney damage as the first manifestation. Methods Fifty-four patients with HLD with renal impairment were retrospectively analyzed. Fifteen of them were diagnosed as HLD with renal impairment. Results The renal failure as the first manifestation of HLD accounted for 2 7.7%, the main clinical manifestations of edema, oliguria, gross hematuria and urinalysis abnormalities. Conclusions The manifestation of renal impairment in children with HLD may occur before the onset of symptoms of liver damage and nervous system, and may be easily misdiagnosed clinically.