The Hutchinson-Gilford Progeria Syndrome: a case report.
The Hutchinson-Gilford Progeria Syndrome: a case report.
复制标题
哈钦森-吉尔福德早衰综合症：病例报告。
DOI：
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发表时间：
2010
影响因子：
3.2
通讯作者：
C. Arancibias
中科院分区：
文献类型：
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作者：
I. Russo;C. Arancibias
HGPS（哈钦森-吉尔福德早衰综合征）是一种罕见的遗传性疾病，发病率为每800万活产婴儿中有1例。最初于1886年被描述，迄今报告的病例不到100例。该综合征的特点是许多器官发生变化而过早衰老。通常在2岁时诊断，平均生存年龄为13.4岁，最常见的死亡原因是心肌梗死。最近的遗传学进展已经确定其原因是1号染色体LMNA基因的缺陷。
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.