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HEREDITARY MONOGENIC DISEASES

           

Wilson disease

Wilson’s disease is an autosomal recessive disorder characterized by the toxic accumulation of copper, mainly in the liver and central nervous system. Over time, the liver is damaged gradually and finally becomes cirrhotic. A small percentage of patients develop acute liver failure, most often in the context of advanced liver fibrosis. In addition, patients may develop neurological complications, which can be serious.

The estimated prevalence is 1 in 25,000 live births in most populations.

The disease occurs because of mutations in the ATP7B gene on chromosome 13.

Clinical manifestations of Wilson’s disease are predominantly hepatic, neurologic and psychiatric, or as in most case a combination of symptoms.

Mechanisms for copper excretion are not well developed in newborns and begin to function more efficiently within the first year of life. For patients with Wilson’s disease, some copper excretory mechanisms do not develop, and copper accumulation begins with birth and continues throughout life, gradually producing clinical manifestations. The majority of patients with Wilson’s disease are diagnosed between the ages of 5 and 35 years (mean age 12-23 years).

Older patients are more likely to have neurological manifestations. The mean age of presentation for patients with neurological symptoms ranges from 15 to 21 years.

Variability in age of onset of Wilson disease probably reflects differences in penetrance mutations and environmental influences and diet.

Diagnosis depends on the detection of clinical and phenotypic own signs of disease and the associated detecting genetic abnormalities.

The disease can be treated efficiently using zinc chelators. Liver transplantation is recommended for cases of patients with fulminant hepatitis and those with a continuous progression of liver dysfunction unresponsive to therapy drug.

GENE OR REGION STUDIED


  • ATP7B