Childhood hepatolenticular degeneration combined with thin basement membrane nephropathy: a case report with literature review / 临床儿科杂志

ABSTRACT

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.