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亨廷顿-吉尔福德早衰综合征:一例报告。

The Hutchinson-Gilford Progeria Syndrome: a case report.

机构信息

Department of Anesthesiology, Division of Pediatric Anesthesiology, Virginia Commonwealth University, Richmond, VA 23298, USA.

出版信息

Minerva Anestesiol. 2010 Feb;76(2):151-4. Epub 2009 Nov 11.

Abstract

The HGPS (Hutchinson Gilford Progeria Syndrome) is a rare genetic disorder with an incidence of 1 per 8 million live births. Originally described in 1886, less than 100 cases have been reported. The syndrome is characterized by premature aging with changes in many organs. The diagnosis is usually made by age 2, the mean survival age is 13.4 years and the most common cause of death is myocardial infarction. Recent genetic advances have identified the cause as a defect in the LMNA gene of chromosome 1.

摘要

HGPS(Hutchinson-Gilford 早老综合征)是一种罕见的遗传疾病,发病率为每 800 万活产儿中有 1 例。该病最初于 1886 年描述,报告病例不足 100 例。该综合征的特征是多器官的过早老化。通常在 2 岁时做出诊断,平均生存年龄为 13.4 岁,最常见的死亡原因是心肌梗死。最近的基因进展确定其原因为 1 号染色体 LMNA 基因缺陷。

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