Objective To analyze the diagnostic approach on hepatolenticular degeneration combined with thin basement membrane nephropathy.Methods A girl presented with microscopic hematuria, liver dysfunction and hypocomplementemia was diagnosed with hepatolenticular degeneration combined with thin basement membrane nephropathy, her clinical data were summarized and analyzed retrospectively.Results A ten years old girl presented with microscopic hematuria and liver dysfunction for a year, dysarthria for a month, and combined with hypocomplementemia but without proteinuria. Renal biopsy showed thin basement membrane nephropathy. Ceruloplasmin was 23.10 mg/L and urinary copper concentration was 120μg, respectively, ocular slit lamp examination showed Kayser-Fleischer ring, cranial MRI showed preternatural signal in both basal and putamen nucleus, mutation analysis showed homozygous mutations in ATP7B and heterozygous mutation in COL4A3 gene,respectively.Conclussion Hepatolenticular degeneration should be suspected in those cases with persistence microscopic hematuria, liver dysfunction and hypocomplementemia.%目的 分析儿童肝豆状核变性合并肾病的诊断.方法 回顾分析1例血尿伴肝功能异常、低补体血症,最终确诊为肝豆状核变性合并薄基底膜肾病患儿的临床资料.结果 患儿,女,10岁.主要临床表现为持续镜下血尿,不伴白蛋白尿,伴肝功能异常、低补体血症、近期构音异常;肾脏病理为薄基底膜肾病;血铜蓝蛋白23.10 mg/L,尿铜120μg/24 h;头颅MRI示双侧基底核及壳核异常信号;腹部超声提示肝硬化;眼裂隙灯双侧角膜可见K-F环;基因突变分析示患儿ATP7B纯合突变,COL4A3杂合突变.结论 持续性镜下血尿伴肝功能异常、低补体血症者,临床需常规除外肝豆状核变性之可能.
展开▼
