Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wilson's disease is a rare autosomal recessive disorder that typically presents as hepatic, neurological or psychiatric illness in late adolescence and early adulthood. Although urolithiasis has been documented in as many as 16% of patients with Wilson's disease, only 3 cases have been described that presented with stone disease. We report on a healthy 17-year-old girl who presented with renal colic and a distal ureteral calculus that was subsequently passed. The patient was hospitalized 2 months later with jaundice, ascites, hyperchloremic metabolic acidosis and elevated hepatic enzymes. She was hypophosphatemic and hypouricemic with a low serum ceruloplasmin. Diagnosis was Wilson's disease with Fanconi's syndrome, but despite penicillamine therapy and intensive care support rapidly progressive hepatic failure, coagulopathy and encephalopathy developed. The patient died before emergency liver transplantation. Our case illustrates the role urologists may have in the diagnosis of this rare but potentially treatable disease. Wilson's disease should be considered in the differential diagnosis of any adolescent or young adult with urolithiasis.
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PMID:Wilson's disease presenting as symptomatic urolithiasis: a case report and review of the literature. 805 76