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Liver disease
Wilson's disease
Wilson's disease is an inherited condition and affects 1 in 30,000 to 50,000 people. The defect lies in lack of copper excretion from the liver. The excess copper can build up in the liver and/or brain causing liver damage and/or neurological problems. Between half to two-thirds of those with Wilson's disease show symptoms before the age of fifteen years. The symptoms are usually non specific, like abdominal pain, bone pains, haemolytic anaemia (hemolytic anemia - US), gallstones, deterioration of handwriting, abnormal movements or speech problems.
Rarely the condition presents as acute liver failure with involvement of the central nervous system. When this happens, there is nearly one hundred per cent death unless the patient receives a liver transplant. The patient presenting with chronic symptoms or diagnosed during family screening needs life-long treatment with drugs called copper chelators (Penicillamine, Trientine, Zinc or Tetrathiomolybdate). It is best to avoid foods like seafood, chocolates or nuts which are rich in copper. The outlook is good. It is important to screen all the young members of the family once a case is diagnosed in the family.
Inheritance patterns
Autosomal recessive.
Prenatal diagnosis
Prenatal diagnosis is possible.
Alpha-1 antitrypsin definciency
| Crigler-najjar syndrome type 1 
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