Severe hepatic Wilson's disease in preschool-aged children

被引：76

作者：

Wilson, DC

Phillips, MJ

Cox, DW

Roberts, EA

机构：

[1] Hosp Sick Children, Div Gastroenterol & Nutr, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Dept Pathol, Toronto, ON M5G 1X8, Canada

[3] Univ Toronto, Toronto, ON, Canada

[4] Univ Alberta, Dept Med Genet, Edmonton, AB, Canada

来源：

JOURNAL OF PEDIATRICS | 2000年 / 137卷 / 05期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1067/mpd.2000.108569

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 3-year-old girl presented with hemolytic anemia, hepatosplenomegalgy, ascites, and evidence of decompensated chronic liver disease. Genotypic DNA analysis revealed that the patient was homozygous for a splice site mutation now designated IVS4-1:G>C, expected to destroy completely the functional gene product of ATP7B, the gene responsible for Wilson's disease. We suggest that this severe mutation caused very early liver disease. Wilson's disease should be considered in the differential diagnosis of established liver disease in the preschool-aged child.

引用

收藏

页码：719 / 722

页数：4

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