UMDNJ-New Jersey Medical School, Newark, NJ, USA.
Paediatr Respir Rev. 2012 Mar;13(1):2-9. doi: 10.1016/j.prrv.2011.01.006. Epub 2011 Apr 15.
Many different pulmonary manifestations are seen in conjunction with genetic disorders. Pulmonary findings have been noted with some cytogenetic conditions, many single gene or mendelian disorders, as well as with a number of inborn errors of metabolism. In addition, congenital lung anomalies are relatively common, occurring as isolated anomalies and as part of multiple anomaly syndromes. Recognition of pulmonary problems in patients with genetic disorders may lead to prompt treatment and intervention, which ultimately might translate into improved outcome. This review is focused on the clinical aspects rather than the basic science; comprehensive reviews on specific disease entities are readily available.
许多不同的肺部表现与遗传疾病有关。一些细胞遗传学疾病、许多单基因或孟德尔疾病以及一些先天性代谢缺陷都有肺部发现。此外，先天性肺异常相对常见，可作为孤立性异常和多种异常综合征的一部分出现。在遗传疾病患者中识别肺部问题可能会导致及时治疗和干预，最终可能会改善结果。本综述侧重于临床方面而不是基础科学；关于特定疾病实体的综合综述随处可见。
