Wilson's disease and hemochromatosis.
Wilson's disease (WD) and hereditary hemochromatosis (HH) are two inherited disorders with potentially devastating and life-threatening complications. Their eminent treatability makes diagnosis in adolescence or young adulthood critical. WD is the result of abnormal copper homeostasis, causing copper overload and end-organ damage. Chelation therapy can be highly efficacious in preventing manifestations of WD. HH is caused by inappropriate absorption of dietary iron, typically as the result of a specific mutation, C282Y, in the HFE gene. End-organ disease from iron accumulation is protean and includes progressive damage of the liver, pancreas, skin, heart, and pituitary. It is important to permit therapeutic phlebotomy to commence before the onset of complications.
Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA.
Ezequiel
E
Neimark
Michael L
ML
Schilsky
Benjamin L
BL
Shneider
D000293:Adolescent; D016497:Adolescent Health Services; D006432:Hemochromatosis / Q000175:diagnosis* / Q000628:therapy*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans