ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis

Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease, usually inherited in an autosomal recessive pattern. Patients with PCD develop recurrent and chronic infections of upper and lower airways, invariably leading to bronchiectasis and impaired lung function. Conductive hearing impairment is common and half of people with PCD have situs abnormalities, e.g. situs inversus or situs ambiguus, which can be associated with congenital heart disease. Many, but not all men are infertile due to immotile sperm, and some women are sub-fertile because of immotile cilia in the Fallopian tubes [1].

Source: European Respiratory Journal - September 4, 2019 Category: Respiratory Medicine Authors: Shoemark, A., Dell, S., Shapiro, A., Lucas, J. S. Tags: Editorials Source Type: research