Nogee Lawrence M, Ryan Rita M
Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Division of Neonatology, Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA.
Children (Basel). 2021 Mar 11;8(3):216. doi: 10.3390/children8030216.
Genetic mechanisms are now recognized as rare causes of neonatal lung disease. Genes potentially responsible for neonatal lung disease include those encoding proteins important in surfactant function and metabolism, transcription factors important in lung development, proteins involved in ciliary assembly and function, and various other structural and immune regulation genes. The phenotypes of infants with genetic causes of neonatal lung disease may have some features that are difficult to distinguish clinically from more common, reversible causes of lung disease, and from each other. Multigene panels are now available that can allow for a specific diagnosis, providing important information for treatment and prognosis. This review discusses genes in which abnormalities are known to cause neonatal lung disease and their associated phenotypes, and advantages and limitations of genetic testing.
遗传机制现已被认为是新生儿肺部疾病的罕见病因。可能导致新生儿肺部疾病的基因包括那些编码在表面活性剂功能和代谢中起重要作用的蛋白质的基因、在肺发育中起重要作用的转录因子、参与纤毛组装和功能的蛋白质，以及各种其他结构和免疫调节基因。患有新生儿肺部疾病遗传病因的婴儿的表型可能具有一些临床特征，难以与更常见的、可逆的肺部疾病病因相区分，也难以相互区分。现在有多种基因检测 panel 可供使用，能够实现特定诊断，为治疗和预后提供重要信息。本综述讨论了已知异常会导致新生儿肺部疾病的基因及其相关表型，以及基因检测的优缺点。
