XV Konferencja Naukowa Polskiego Towarzystwa Hepatologicznego
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Journal Abstract
 
Wilson’s Disease – ethiopathogenesis and clinical picture
Medical Science Review - Hepatologia 2006; 6 46-50
aaICID: 449240
Article type: Original article
IC™ Value: 3.59
Abstract provided by Publisher
 
Wilson’s Disease (WD) is a rare disorder of copper metabolism resulting from a functional disturbance of the cellular copper-transporting enzyme ATP-ase7B, which is encoded on the ATP7B gene located on chromosome 13. About 300 mutations have been detected in this gene to date. In individuals possessing mutations in both alleles of ATP7B, copper accumulates initially in the liver and then in the cornea, brain, kidneys, and heart. The clinical picture of WD is extraordinarily diverse. The first disease symptoms may appear between 5 and 60 years of age. In 40% of patients the disease manifests with liver symptoms. Another 40% of overall presentations involves neurological (frequently cerebellar or extrapyramidal) symptoms. About 15% of patients develop psychiatric complications. It is thought that different types of mutations in the ATP7B gene may result in the different phenotypes of WD. The assessment of whether the phenotypic diversity in WD is related to allelic heterogeneity is hampered by the large number of mutations already detected. So far it has been established that frame-shift or non-sense mutations are associated with more severe disturbances in copper metabolism and with a more severe clinical phenotype of WD than mis-sense mutations. It has also been demonstrated that the p.H1069Q mutation (the most frequent mutation in Polish WD patients) results in a relatively milder course of the disease compared with many other mutations in ATP7B. The diagnosis of the WD is based on slit-lamp examination of the eyes for Kayser-Fleisher rings, the results of different biochemical tests (serum ceruloplasmin and copper concentrations, 24-hour urine copper excretion, hepatic copper concentration, and incorporation of radiocopper into ceruloplasmin), and molecular genetic analysis for mutations in the ATP7B gene. The treatment options consist of d-penicillamine or zinc salts (most frequently zinc sulfate), and (less frequently) triethylenetetramine (trientine). The key to good prognosis for WD is early diagnosis (when the symptoms are not very severe) and long-term maintenance of treatment.


ICID 449240


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