Genes involved in the production of pulmonary surfactant are crucial for the development and maintenance of healthy lungs. Germline mutations in surfactant-related genes cause a spectrum of severe monogenic pulmonary diseases in patients of all ages. The majority of affected patients present at a very young age, however, a considerable portion of patients have adult-onset disease. Mutations in surfactant-related genes are present in up to 8% of adult patients with familial interstitial lung disease (ILD) and associate with the development of pulmonary fibrosis and lung cancer.

High disease penetrance and variable expressivity underscore the potential value of genetic analysis for diagnostic purposes. However, scarce genotype–phenotype correlations and insufficient knowledge of mutation-specific pathogenic processes hamper the development of mutation-specific treatment options.

This article describes the genetic origin of surfactant-related lung disease and presents spectra for gene, age, sex and pulmonary phenotype of adult carriers of germline mutations in surfactant-related genes.

参与肺表面活性物质产生的基因对于健康肺部的发育和维持至关重要。表面活性剂相关基因的种系突变会在所有年龄段的患者中引起一系列严重的单基因肺病。大多数受影响的患者出现在非常年轻的时候，但是，相当一部分患者患有成人发病。表面活性剂相关基因的突变存在于多达 8% 的成年家族性间质性肺病 (ILD) 患者中，并且与肺纤维化和肺癌的发展有关。

高疾病外显率和可变表达性强调了遗传分析用于诊断目的的潜在价值。然而，稀缺的基因型-表型相关性和对突变特异性致病过程的了解不足阻碍了突变特异性治疗方案的开发。

本文描述了表面活性物质相关肺病的遗传起源，并展示了表面活性物质相关基因种系突变成年携带者的基因谱、年龄、性别和肺表型。