Recent advances of diagnostic approaches in primary ciliary dyskinesia / 临床儿科杂志

ABSTRACT

Primary ciliary dyskinesia (PCD) is an autosomal recessive or x-linked disorder of cilia structure and (or) function, with a morbidity of 1:10 000–1:50 000 from foreign reports, while epidemic data of PCD in China is not available yet. PCD is due to cilia biallelic gene mutations leading to impaired tissue structure and organ function. Clinical phenotypes include chronic infections of the respiratory tract, fertility problems, disorders of organ laterality, etc, and the percent age of Kartagener syndrome is about 50%. The frequently used diagnostic methods are nasal NO examination, high-speed video microscopy, electron microscopy, genetic tests, chest high-resolution computed tomography and spirometry at present. Each method has its highlights and disadvantages, meanwhile, effective diagnostic algorithm and therapeutic protocols are needed for further research.