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[特发性血色素沉着症]

[Idiopathic hemochromatosis].

作者信息

Marin M G

出版信息

Minerva Med. 1985 Mar 31;76(13):627-34.

PMID:2986052
Abstract

Idiopathic hemochromatosis is a hereditary disease characterized by a progressive iron overload secondary to high intestinal iron absorption. After a latent period of many years, manifestations of liver cirrhosis, diabetes mellitus, cardiac failure, hypogonadism, skin hyperpigmentation and arthropathy can occur. Liver cirrhosis is the most common feature and it is complicated by hepatocellular carcinoma in 30% of cases. Tests of high sensibility are available for early diagnosis. Repeated phlebotomy can prevent clinical features in asymptomatic patients and can improve prognosis in symptomatic subjects. Current concepts in idiopathic hemochromatosis are reported in this review.

摘要

特发性血色素沉着症是一种遗传性疾病,其特征为肠道铁吸收过多导致的进行性铁过载。经过多年的潜伏期后,可能会出现肝硬化、糖尿病、心力衰竭、性腺功能减退、皮肤色素沉着和关节病等表现。肝硬化是最常见的特征,30%的病例会并发肝细胞癌。有高灵敏度检测方法可用于早期诊断。反复放血可预防无症状患者出现临床症状,并可改善有症状患者的预后。本文综述了特发性血色素沉着症的当前概念。

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