Wilson's disease in two siblings--one with fatal outcome.
The clinical and biochemical findings in two siblings with Wilson's disease are described. One of them, an 11-year-old girl, developed acute liver failure terminating in death within a few weeks. Prior to her terminal illness she had been in good health without symptoms suggestive of Wilson's disease. Copper contents of urine, liver, kidney and brain were 20-100 times above the upper normal limits. The liver showed extensive micronodular cirrhosis with nonbile pigment deposits. Her 15-year-old brother had abnormal liver function tests with urinary copper excretion 20 times above the upper normal limit. Treatment with penicillamine was started. Following a short period of deterioration his condition has steadily improved.
Sagen
E
E
Lange
O
O
Westgaard
G
G
Bland
J
J
Romslo
I
I
D000293:Adolescent; D001344:Autopsy; D001921:Brain / Q000378:metabolism; D002648:Child; D003300:Copper / Q000378:metabolism; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male
D003300:Copper