HAMP基因变异致遗传性血色病1例
One case of hereditary hemochromatosis caused by HAMP gene mutation
王丹丹 1段体龙 1黄超群 1丛东威1
作者信息
- 1. 150000 哈尔滨,解放军962医院感染科
- 折叠
摘要
遗传性血色病(hereditary hemochromatosis,HH),是一种罕见的常染色体遗传病,90％ 以上HH病例是由于第6号染色体血色病基因突变所致,其发病机制为患者铁代谢相关基因突变导致小肠对铁吸收过多,患者体内过量的铁进行性蓄积导致肝、肾、脑、胰腺等组织损伤,临床上表现为皮肤色素沉着、肝肿大、肝硬化、心脏扩大、心律失常、心力衰竭等.本文报道1例HAMP基因变异导致的HH病例的临床表现和诊断经过.
Abstract
Hereditary hemochromatosis (HH) is a rare autosomal inherited disease. More than 90％ of HH cases are caused by mutations in the hemochromatosis gene on chromosome 6. Its pathogenesis is caused by mutations in iron metabolism related genes, leading to excessive absorption of iron in the small intestine. Excessive accumulation of iron in the patient's body leads to tissue damage such as liver, kidney, brain, and pancreas, clinically manifested as skin pigmentation, liver enlargement, cirrhosis, cardiac enlargement, arrhythmia, and heart failure. This article reports on the clinical manifestations and diagnostic process of a case of HH caused by genetic variation in HAMP.
关键词
遗传性血色病/肝硬化/血色病基因检测Key words
hereditary hemochromatosis/liver cirrhosis/gene testing for hemochromatosis引用本文复制引用
出版年
2024
NETL
NSTL
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