Wilson disease in septuagenarian siblings: Raising the bar for diagnosis

被引:124
作者
Ala, A
Borjigin, J
Rochwarger, A
Schilsky, N
机构
[1] New York Weill Cornell Med Ctr, Ctr Liver Dis & Transplantat, New York, NY 10021 USA
[2] Mt Sinai Med Ctr, Div Liver Dis, Recanati Miller Transplant Inst, New York, NY 10029 USA
[3] Univ Michigan, Sch Med, Dept Physiol, Ann Arbor, MI USA
[4] New York Weill Cornell Med Ctr, Div Gastroenterol & Hepatol, New York, NY 10021 USA
关键词
D O I
10.1002/hep.20601
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Wilson Disease (WD) usually presents in the first decades of life, although rare patients have a later presentation. We report the clincial features, diagnostic evaluation, and outcome with treatment of two septuagenarian siblings evaluated as part of a research trial for treatment of neurological WD. The index case was a 72-year-old woman who suffered progressive neurological disability, then developed sub-fulminant liver failure. Her sibling was a 70-year-old man with minimal neurological symptoms and a mild depressive disorder. His liver biopsy revealed only steatosis and minimal fibrosis and an elevated hepatic copper content (671 mug/g dry weight liver). Molecular studies demonstrated compound heterozygosity for disease specific ATP7B mutations E1064A and H1069Q in both patients. Both individuals were treated with trientine and Zn followed by Zn maintenance therapy. Over the last 5 years, the clincial course stabilized and improved, although the index case recently died from bronchopneumonia. In conclusion, advanced age and different clinical presentations of these two subjects with identical ATP7B mutations raises the question of the degree of penetrance for these and other ATP7B mutations. Environmental and extragenic factors are pivotal determinants of disease phenotype. We suggest that WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms.
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页码:668 / 670
页数:3
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