Research progress on primary ciliary dyskinesia in children / 中华实用儿科临床杂志

ABSTRACT

Primary ciliary dyskinesia (PCD) is an inherited disease characterized by impaired ciliary ultrastructure and function.Respiratory symptoms are the most important clinical manifestations of PCD.More than 50 pathogenic genes responsible for PCD have been identified, which have been contributed to clarify the etiology of PCD.At present, special therapy and gold standard for the diagnosis of PCD are scant.Gene therapy can restore ciliary function.Gene testing can identify the genetic etiology of PCD, and promote the development of individualized gene therapy.This review aims to summarize the research progress on genetic etiology of PCD and its genetic testing and gene therapy.