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阿拉巴马州HFE血色素沉着症先证者中的杜普伊特伦挛缩症

Dupuytren's Contracture in Alabama HFE Hemochromatosis Probands.

作者信息

Barton James C, Barton J Clayborn

机构信息

Southern Iron Disorders Center, Birmingham, Alabama, USA.

出版信息

Clin Med Insights Arthritis Musculoskelet Disord. 2012;5:67-75. doi: 10.4137/CMAMD.S9935. Epub 2012 Aug 21.

Abstract

BACKGROUND

Dupuytren's contracture (DC) and HFE hemochromatosis occur in some of the same at-risk populations and present with similar comorbid conditions.

METHODS

We estimated DC prevalence in two cohorts of white Alabama hemochromatosis probands (294 C282Y homozygotes, 67 C282Y/H63D compound heterozygotes) in a retrospective study. We performed logistic regressions on DC using the following independent variables: age, body mass index, heavy ethanol consumption, serum ferritin, elevated serum AST/ALT, non-alcoholic fatty liver disease, viral hepatitis, cirrhosis, and diabetes.

RESULTS

One man and two women with C282Y homozygosity had DC (prevalence 1.02%; 95% CI 0.35%-2.96%). A man with C282Y/H63D had DC (prevalence 1.49%; 95% CI 0.26%-7.98%). DC occurred as an autosomal dominant trait in his kinship. In regression analyses, no single variable predicted DC. We observed no new DC cases after the diagnosis of hemochromatosis (mean follow-up 12.9 ± 7.5 years (1 SD), and 9.0 ± 5.1 years, respectively).

CONCLUSIONS

Our prevalence estimates of DC in white Alabama hemochromatosis probands are similar to those found in the white US population cohorts. DC risk was unrelated to the variables we studied.

摘要

背景

杜普伊特伦挛缩症(DC)和HFE血色素沉着症在一些相同的高危人群中出现,且伴有相似的合并症。

方法

在一项回顾性研究中,我们估计了阿拉巴马州两个白人血色素沉着症先证者队列(294名C282Y纯合子,67名C282Y/H63D复合杂合子)中DC的患病率。我们使用以下自变量对DC进行逻辑回归分析:年龄、体重指数、大量饮酒、血清铁蛋白、血清AST/ALT升高、非酒精性脂肪性肝病、病毒性肝炎、肝硬化和糖尿病。

结果

一名C282Y纯合子男性和两名C282Y纯合子女性患有DC(患病率1.02%;95%可信区间0.35%-2.96%)。一名C282Y/H63D男性患有DC(患病率1.49%;95%可信区间0.26%-7.98%)。DC在其家族中表现为常染色体显性性状。在回归分析中,没有单一变量能够预测DC。在血色素沉着症诊断后,我们未观察到新的DC病例(平均随访时间分别为12.9±7.5年(1个标准差)和9.0±5.1年)。

结论

我们对阿拉巴马州白人血色素沉着症先证者中DC患病率的估计与美国白人人群队列中的估计相似。DC风险与我们研究的变量无关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9217/3431974/4906b9163911/cmamd-5-2012-067f1.jpg

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