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Wilson's disease (WD) is a rare disorder of the copper metabolism with an autosomal recessive transmission. In children, the most frequent clinical presentation is liver disease, variable from increased transaminases to liver cirrhosis or acute liver failure. In young adulthood, the main forms could be neurological and psychiatric. A high level of suspicion should be present for an early diagnosis of WD, as the diagnosis is based on a combination of clinical signs, biochemical tests, histology, and genetics. The Kayser-Fleisher ring is not as frequent in children as in adults. In children, 24-hour urinary copper excretion could be in the normal range, and the d-penicillamine challenge test should be used. During the last few years, genetic tests have become more affordable, helping with the final diagnosis of WD. An early diagnosis and treatment could improve the evolution of WD in children, but in some cases, the only option for long-term survival could be liver transplantation. Besides the zinc salts and chelating agents (d-penicillamine and trientine), other molecules have been researched to improve the treatment of WD. Also, gene therapy could represent the solution in the future, but there are issues regarding the vectors and the gene dimensions before this therapy may be used on a large scale. Studies regarding the screening for WD lead to evidence of possible ATP7B peptides that could be measured for an early diagnosis. Besides all the possible advances in diagnosis and treatment, the patient's adherence to treatment influences the long-term prognosis. Increasing awareness and improving policies for rare diseases may give WD patients access to adequate care and services throughout Europe.
Pop et al. (Thu,) studied this question.