Late-onset Wilson's disease

被引:185
作者
Ferenci, Peter
Czlonkowska, Anna
Merle, Uta
Ferenc, Szalay
Gromadzka, Grazyna
Yurdaydin, Chan
Vogel, Wolfgang
Bruha, Radan
Schmidt, Hartmut T.
Stremmel, Wolfgang
机构
[1] Med Univ Vienna, Dept Internal Med 3, A-1090 Vienna, Austria
[2] Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland
[3] Heidelberg Univ, Dept Gastroenterol & Hepatol, D-6900 Heidelberg, Germany
[4] Semmelweis Univ, Dept Internal Med 1, H-1085 Budapest, Hungary
[5] Ankara Univ, Sch Med, Dept Gastroenterol, TR-06100 Ankara, Turkey
[6] Univ Innsbruck, Dept Internal Med, A-6020 Innsbruck, Austria
[7] Charles Univ Prague, Fac Med 1, Dept Med 4, CR-11636 Prague 1, Czech Republic
[8] Univ Klinikum Munster, Munster, Germany
关键词
D O I
10.1053/j.gastro.2007.02.057
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background & Aims: The clinical symptoms and age at onset of Wilson's disease (WD) are highly variable. This study investigated patients who became symptomatic at >40 years of age. Methods: Clinical features, laboratory data, and mutation analysis were evaluated in 46 (3.8%) of 1223 patients who were investigated in a multinational study on genotype-phenotype correlations (1053 index patients, 170 siblings) who were >40 years of age at onset of symptoms and, in 2 asymptomatic siblings, diagnosed at >40 years of age. Results: Thirty-one patients presented with neurologic symptoms (mean age, 44.5 years; range, 40-52; male/.female, 14/17), 15 presented with liver disease (mean age, 47.1 years; range, 40-58; male/female, 6/9), and 2 were asymptomatic siblings. Hepatic copper content was measured in 17 patients and was above 250 mu g/g dry weight in 13. One patient with hepatic presentation had "fulminant" WD, the remaining 14 abnormal liver function tests and/or hepatomegaly. Liver biopsy specimens were available in 13 patients presenting with liver disease (cirrhosis, 10; chronic hepatitis, 2; steatosis, 1; no abnormalities, 1) and in 14 neurologic patients (cirrhosis, 9; advanced fibrosis, 1; chronic hepatitis, 2; no abnormalities, 2). Twenty-seven of the 46 index cases had mutations on both chromosomes (including 13 H1069Q/H1069Q), 13 on just 1 chromosome. Conclusions: Late-onset WD is a frequently overlooked condition. The diagnostic features and the frequency of late-onset WD gene mutations were not different than in patients with an earlier onset of disease. Factors other than ATP7B mutations may modify the phenotypic presentation of WD.
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页码:1294 / 1298
页数:5
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