Primary ciliary dyskinesia

Codes

IDC-10: J98.8

ORPHA: 244

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
The occurrence is estimated at 40 per 1,000,000 inhabitants.
Cause
The disorder is caused by mutations identified in genes on chromosomes 5, 9 and 17. The mutations cause a congenital defect in the function of the celia. The disorder is inherited autosomal recessively. New mutations may possibly have another inheritance pattern.
General symptoms
Cilia are found in several bodily organs, e.g., respiratory tract (from the nose and sinuses to the trachea), in the sperm tail and in olfactory cells. Mucus clearance from the lungs may be impaired already at birth. Ear and eustachian (auditory) tube infections as well as wet cough that becomes chronic are common during the first years. Recurrent lung infections lead to impaired lung function and possibly poor oxygenation. Sinus infections, poor sense of smell and eye anomalies are common. Fertility is often reduced. Half of those with Kartagener syndrome have major organs on the opposite side to normal. In these cases the diagnosis is often discovered early.
Synonyms
Immotile Cilia Syndrome, Kartageners Syndrome.

Orofacial/odontological symptoms

Persons with Primary Ciliary Dyskinesia do not have more orofacial or odontological problems than do people in general.

Advice on follow-up and treatment

  • As infections may be prolonged and severe, especially if lung function is affected, dental care should be clearly prevention oriented.
  • Early contact should be made with dental services for assessment and treatment planning.
  • Antibiotic therapy should be considered in oral infections.
  • Dental visits should be planned taking into account the time of day that the patient feels best given medications and symptoms.

Sources

MHC-basen Rare diseases
Updated: 0001-01-01 00:00