Bielinska Malgorzata, Jay Patrick Y, Erlich Jonathan M, Mannisto Susanna, Urban Zsolt, Heikinheimo Markku, Wilson David B
Department of Pediatrics, Washington University and St. Louis Children's Hospital, St. Louis, MO 63110, USA.
Ann Med. 2007;39(4):261-74. doi: 10.1080/07853890701326883.
Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH. These include genes for transcription factors, molecules involved in cell migration, and extracellular matrix components. The expression patterns of these genes in the developing embryo suggest that mesenchymal cell function is compromised in the diaphragm and other affected organs in patients with CDH. We discuss potential mechanisms underlying the seemingly random combination of diaphragmatic, pulmonary, cardiovascular, and gonadal defects in these patients.
先天性膈疝（CDH）是一种严重的出生缺陷，伴有肺、心脏、睾丸和其他器官的畸形。患有CDH的患者可能有这些膈外缺陷的任何组合，这表明CDH通常是一种全身性胚胎病的表现。本综述重点介绍了人类和小鼠遗传学的最新进展，这些进展已导致鉴定出与CDH相关的基因。这些基因包括转录因子基因、参与细胞迁移的分子以及细胞外基质成分。这些基因在发育中的胚胎中的表达模式表明，CDH患者的膈肌和其他受影响器官中的间充质细胞功能受损。我们讨论了这些患者膈肌、肺、心血管和性腺缺陷看似随机组合背后的潜在机制。
