primary ciliary dyskinesia
Pronunciation: SIL-ee-air-ee dis-ki-NEE-zha
Also written as: PCD — primary ciliary dyskinesia
A genetic disorder affecting cilia function, leading to chronic respiratory infections and organ positioning abnormalities.
Full Definition
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder affecting the structure and function of motile cilia throughout the body. Defective ciliary motion impairs mucociliary clearance in the respiratory tract, leading to chronic sinusitis, recurrent pneumonia, and progressive bronchiectasis. Approximately half of patients also have situs inversus due to ciliary dysfunction during embryonic development. Other manifestations may include chronic otitis media, male infertility, and in some cases, heterotaxy syndrome. Diagnosis requires specialized testing including nasal nitric oxide measurement, high-speed video microscopy of ciliary motion, and transmission electron microscopy of ciliary ultrastructure.
Usage
Usage note: Kartagener syndrome refers specifically to PCD with situs inversus totalis.
In Context
- "The patient's combination of situs inversus and recurrent pneumonia suggested primary ciliary dyskinesia." — Genetics consultation
- "Nasal nitric oxide levels were markedly reduced, supporting the diagnosis of PCD." — Diagnostic test result