[Wilson disease].
Wilson disease is an autosomal recessive inherited disorder of human copper metabolism that leads to neurological symptoms and hepatic damage of variable degree. The affected gene ATP7B encodes a hepatic copper transport protein, which plays a key role in human copper metabolism. Clinical symptoms are complex with neurologic symptoms such as tremor, dysarthria, psychiatric disorders etc., predominant hepatic disease or mixed forms. Copper deposition in the liver results in acute liver failure, chronic hepatitis or liver cirrhosis. Early recognition by means of clinical, biochemical or genetic examination and early initiation of therapy with chelators or zinc-salts are essential for outcome and prognosis. Liver transplantation is an alternative in cases with acute and chronic liver failure and cures the hepatic disease. Frequent monitoring of drug therapy, adverse effects, and compliance is critical for the prognosis of the disease.
Huster
D
D
Medizinische Klinik & Poliklinik II, Universität Leipzig. dominik.huster@medizin.uni-leipzig.de
Kühn
H-J
HJ
Mössner
J
J
Caca
K
K
D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D002614:Chelating Agents / Q000627:therapeutic use*; D000073840:Copper-Transporting ATPases; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D015316:Genetic Therapy / Q000379:methods*; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D008103:Liver Cirrhosis; D016031:Liver Transplantation; D009422:Nervous System Diseases; D017410:Practice Guidelines as Topic; D010818:Practice Patterns, Physicians'; D016896:Treatment Outcome
D027682:Cation Transport Proteins; D002614:Chelating Agents; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases