Research progress on genetic pathogenesis and gene diagnosis of primary ciliary dyskinesia in children / 中华实用儿科临床杂志

ABSTRACT

Primary ciliay dyskinesia (PCD)is a kind of monogenic disorder.Young patients often present recurrent respiratory tract infection, even progress to bronchiectasis, and some children are combined with situs inversus.The pathogenesis is closely related to the abnormality of cilia structure and/or function.So far, over 40 genes that are associated with PCD has been confirmed in humans.About 70% of the cases are correlated with these genes.Although the relationship between genotype and phenotype is not fully clear, some genetic defects and clinical manifestations might have certain relevance.The severity of the clinical phenotype may also be related to a specific genotype.With the maturity of gene sequencing technology and the reduction of the cost, gene sequencing can also be applied in clinical practices to make up for the shortcomings of traditional diagnostic methods.