28.1 Types of Ciliary Motility Disorders

28.1.1 Cystic Fibrosis

• Autosomal recessive

• Defective mucosal chloride transport gene

• Malabsorption and progressive obstructive pulmonary disease

• One-third children suffer with bilateral NPs

• Most patients have chronic pansinusitis

• Histology of NPs in CF differs—fewer eosinophils and more lymphocytes

• Pseudomonas aeruginosa commonly found in the sinus disease

• Sweat test to detect abnormal chloride levels: >60 mEq/L = diagnostic

• Other diagnostic tests:

CT scans of sinuses

Genotyping—PCR

Semen analysis

Nasal PD measurement

28.1.2 Primary Ciliary Dyskinesia

• Primarily a dysfunction of the cilial motility rather than a loss of their function outright

• Usually a recessive condition, but there can be genetic heterogeneity

28.1.3 Kartagener Syndrome

• Primary ciliary dyskinesia (PCD) with situs inversus