肺泡毛细血管发育不良。
Alveolar capillary dysplasia.
机构信息
Pediatric Critical Care Medicine, Weill Cornell Medical College, New York, NY 10065, USA.
出版信息
Am J Respir Crit Care Med. 2011 Jul 15;184(2):172-9. doi: 10.1164/rccm.201010-1697CI. Epub 2011 Mar 11.
Abstract
Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This review aims to address recent findings in the etiology and genetics of ACD/MPV and to raise awareness of this poorly known disease, which may also present as milder, unclassified forms. Successively discussed are what is known about the epidemiology, pathogenesis, pathophysiology, diagnostic indicators and approaches, genetic testing, treatment, and cases of delayed onset. The review concludes with suggestions for future directions to answer the many unknowns about this disorder.
摘要
肺静脉错位的肺腺泡发育不良（ACD/MPV）是一种罕见的、致命的新生儿和婴儿期肺发育障碍。本综述旨在探讨 ACD/MPV 的病因学和遗传学的最新发现，并提高对这种鲜为人知的疾病的认识，该病也可能表现为较轻的、未分类的形式。依次讨论的是流行病学、发病机制、病理生理学、诊断指标和方法、基因检测、治疗以及迟发性病例。综述最后提出了未来研究方向的建议，以回答关于这种疾病的许多未知问题。
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本文引用的文献
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.SETBP1 基因中的新生突变导致辛基尔-吉迪恩综合征。
Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2.
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Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.FOXF1 和 FOXC2 基因的杂合缺失与致死性肺泡毛细血管发育不良和先天性心脏病有关。
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Congenital alveolar dysplasia of the lungs.先天性肺肺泡发育不良
Am J Pathol. 1948 Jul;24(4):919-31.
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