Primary Ciliary Dyskinesia

Describe nasal symptoms experienced by newborns with PCD.

constantly runny nose, year round nasal congestion, rhinosinusitis

What disease needs to be ruled out when considering PCD?

cystic fibrosis

Describe symptoms experienced in the ears by newborns with PCD.

defective Eustachian tube ciliary function leads to poor clearance, chronic otitis media, conductive hearing loss

What is one way to reach a more definitive diagnosis of PCD?

electron microscoppic visualization of the missing dynein arm or radial spokes

Describe fertility problems experienced by patients with PCD.

men have immotile spermatozoa, women have decreased fertility due to impaired ciliary function in the fallopian tubes

Describe pulmonary symptoms experienced by newborns with PCD.

mild respiratory distress, tachypnea, increased incidence of infections, chronic cough, symptoms increase over the course of the day

What are some tests available for PCD?

nasal nitric oxide, measure mucociliary transport, assess ciliary motion and ultrastructure using HSVM and electron microscopy, genetic testing

What is the prognosis for PCD?

normal lifespan in general, lung function declines over time, advise against smoking, may require surgical intervention for symptoms over time

Define Kartagener's syndrome.

situs inversus, chronic sinusitis, bronchiectasis

What congenital abnormalities are associated with PCD?

transposition of great vessels, pyloric stenosis, epispadias, congenital cardiac abnormalities, pectus excavatum, scoliosis

How do you treat PCD?

variable, symptomatic, monitoring is essential