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A 15-year-old presents with tremor and dysarthria. Slit-lamp exam reveals Kayser-Fleischer rings. Liver enzymes are mildly elevated. Ceruloplasmin is low and 24-hour urine copper is elevated.
AR; ATP7B (copper-transporting ATPase)
- Hepatic: Hepatitis, cirrhosis, fulminant liver failure
- Neurologic: Tremor, dystonia, dysarthria, psychiatric symptoms
- Ocular: Kayser-Fleischer rings (copper in Descemet membrane)
- Hematologic: Coombs-negative hemolytic anemia
- Low ceruloplasmin (<20 mg/dL)
- Elevated 24-hour urine copper (>100 μg/day)
- Elevated hepatic copper (>250 μg/g dry weight)
- Kayser-Fleischer rings
- ATP7B genetic testing
- Copper chelation (penicillamine, trientine), zinc, liver transplant
"My Wild teenage son (Wilson)": Wilson disease presents in teens (15-35 yo): "Wilson's sons are young" (vs. 40-60 yo in hemochromatosis). Think: "My Wild teenage son (Wilson) is AT Parties until the Cops (Copper) show up," for ATP7B and copper accumulation. CeruLOWplasmin is LOW in WiLson's. The "W" in Wilson's has 3 ("tri") spikes on top, for trientine (second-line chelator). Multiple things are down: mood is down (depression), ceruloplasmin is down.