RRML - Clinical value of molecular testing in patients with Wilson disease

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Dr. Adrian Man

Nr. 19(4)/2011

Clinical value of molecular testing in patients with Wilson disease

Dorina Stoicănescu, Valerica Belengeanu, Monica Stoian, Nicoleta Andreescu, Edward Seclaman, Andrei Anghel, Alina Belengeanu


Wilson’s disease is an autosomal recessive disorder characterized by excess hepatic copper accumulation and impaired biliary copper excretion. Over 300 mutations of ATP7B gene have been reported in this disorder, 60% are homozygotes, 30% compound heterozygotes, while 37-63% of the Caucasian patients have the H1069Q mutation. We report an extended family with an affected homozygous member and four heterozygotes showing H1069Q mutation. The diagnosis was suspected on the bases of the presence of Kayser-Fleischer rings in the cornea and the presence of a low serum ceruloplasmin level. Neurological involvement was assessed by clinical examination, while liver involvement was assessed by liver function tests and ultrasonography. The patient with the homozygote genotype presented only neurological manifestations, without the alteration of the hepatic function. By contrast with other studies on patients with H1069Q mutation, our patient showed a degree of concordance between genotype and phenotype, having only neurological symptoms. It is possible that common epigenetic or environmental factors within this family strengthened the genotype phenotype concordance not seen in other families. An important note is that patients with Wilson’s disease presenting predominantly neurological symptoms have a later onset and a longer delay until definitive diagnosis and poorer outcome than patients with hepatic symptoms. Wilson's disease should be considered in the differential diagnosis for patients with neurological manifestations, as the disorder benefits of specific treatment with chelating agents and zinc salts, which will improve the clinical status.

Keywords: Wilson disease,ATP7B gene mutation,molecular analysis

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How to cite
Stoicănescu D, Belengeanu V, Stoian M, Andreescu N, Seclaman E, Anghel A, et al. Clinical value of molecular testing in patients with Wilson disease. Rev Romana Med Lab. 2011;19(4):373-9