Literature DB >> 16357618

Late onset of Wilson's disease in a family with genetic haemochromatosis.

Nina Dib1, Emmanuelle Valsesia, Marie Claire Malinge, Yves Mauras, Micheline Misrahi, Paul Calès.   

Abstract

We report the coexistence of Wilson's disease and genetic haemochromatosis in one family. The diagnosis of genetic haemochromatosis was established in a 52-year-old man. Among his siblings, one 57-year-old sister and one 55-year-old brother had decreased copper and ceruloplasmin levels in serum and increased urinary copper excretion. The sister shared the same human leucocyte antigen haplotypes and was homozygous for the HFE mutation C282Y, like the propositus. However, she had normal liver iron content and increased liver copper content. Her dietary copper intake was probably excessive. The association of Wilson's disease and genetic haemochromatosis is rare and has only been described twice. The onset of Wilson's disease after 50 years of age is rare; Wilson's disease should be considered in any patient with unexplained chronic liver disease; an excess in liver copper content might be induced by excessive dietary input in a susceptible individual.

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Year:  2006        PMID: 16357618     DOI: 10.1097/00042737-200601000-00008

Source DB:  PubMed          Journal:  Eur J Gastroenterol Hepatol        ISSN: 0954-691X            Impact factor:   2.566


  3 in total

Review 1.  Challenges in the diagnosis of Wilson disease.

Authors:  Aurélia Poujois; France Woimant
Journal:  Ann Transl Med       Date:  2019-04

Review 2.  Late onset fulminant Wilson's disease: a case report and review of the literature.

Authors:  Ella Weitzman; Orit Pappo; Peretz Weiss; Moshe Frydman; Yael Haviv-Yadid; Ziv Ben Ari
Journal:  World J Gastroenterol       Date:  2014-12-14       Impact factor: 5.742

3.  Wilson's disease masquerading as nonalcoholic steatohepatitis.

Authors:  Sabina Mahmood; Nobu Inada; Akiyoshi Izumi; Miwa Kawanaka; Haruhiko Kobashi; Gotaro Yamada
Journal:  N Am J Med Sci       Date:  2009-07
  3 in total

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