Monogenic diseases in respiratory medicine: Clinical perspectives

Abstract

With the increasing awareness of genetics in respiratory medicine and improvements in molecular diagnostic techniques, many complicated and rare diseases in respiratory medicine can be diagnosed. Most respiratory diseases have no specific phenotype. However, the clinical spectrum of monogenic diseases in respiratory medicine varies, from pulmonary disease to other inherited disorders that involve the lung. The genes that mediate some of these diseases have been identified. Certain monogenic diseases remain poorly characterized clinically. Because of the specificity of the phenotype of respiratory disease, a future challenge will be to correlate the phenotype and genotype and understand its phenotypic variability. With the development of precision medicine, research on monogenic disorders has been intensive and vigorous. In this article, we provide a brief clinical introduction to monogenic diseases in pediatrics.