Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management
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DOI：
10.1038/ejhg.2008.10
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发表时间：
2008-05-01
影响因子：
5.2
通讯作者：
Porter, Forbes D.
中科院分区：
文献类型：
--
作者：
Porter, Forbes D.
Smith-Lemli-Opitz综合征(SLOS)是一种由于7-脱氢胆固醇还原酶(DHCR7)缺乏而导致的畸形综合征。DHCR7主要催化7-脱氢胆固醇(7DHC)还原为胆固醇。在SLOS中，无论是在胚胎发育期间还是出生后，这都会导致胆固醇下降和7DHC水平上升。SLOS中发现的畸形可能是由于胆固醇降低、7DHC增加或这两个因素的组合造成的。本文就系统性红斑狼疮的临床特点、诊断、治疗措施以及目前对系统性红斑狼疮的病理生理过程的认识作一综述。
Smith-Lemli-Opitzsyndrome ( SLOS) is a malformation syndrome due to a deficiency of 7- dehydrocholesterol reductase ( DHCR7). DHCR7 primarily catalyzes the reduction of 7- dehydrocholesterol ( 7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these two factors. This review discusses the clinical aspects and diagnosis of SLOS, therapeutic interventions and the current understanding of pathophysiological processes involved in SLOS.