Severe hepatic Wilson's disease in preschool-aged children.
A 3-year-old girl presented with hemolytic anemia, hepatosplenomegaly, 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.
Wilson
D C
DC
Division of Gastroenterology & Nutrition and Department of Pathology, The Hospital for Sick Children, Toronto, Canada.
Phillips
M J
MJ
Cox
D W
DW
Roberts
E A
EA
D000251:Adenosine Triphosphatases / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D002648:Child; D002675:Child, Preschool; D000073840:Copper-Transporting ATPases; D003937:Diagnosis, Differential; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation
D002352:Carrier Proteins; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases