Correlation of presentation and pathologic condition in primary ciliary dyskinesia.
OBJECTIVE
To better characterize primary ciliary dyskinesia (PCD) and improve the diagnosis of this uncommon disorder.


METHODS
We retrospectively reviewed the records of 118 patients with ciliary biopsy or brushing specimens examined at Yale University School of Medicine from 1991 to 2001.


RESULTS
Sinonasal, middle ear, and pulmonary infections were more common in patients with PCD-positive biopsy results than in those with negative results. In addition, PCD caused by random ciliary orientation presented similarly to PCD caused by other ultrastructural defects.


CONCLUSIONS
Patients who present with cough alone are highly unlikely to have PCD (chi(2 ) test, 24.85; P<.001). In contrast, patients who present with multiple manifestations are highly likely to have PCD (chi(2) test, 22.2; P<.001). This information may assist the clinician in the diagnosis of PCD.
Chin
Gregory Y
GY
Department of Otolaryngology-Head and Neck Surgery, University of Southern California Keck School of Medicine, Los Angeles, USA.
Karas
David E
DE
Kashgarian
Michael
M
D000293:Adolescent; D000328:Adult; D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000473:pathology*; D046508:Culture Techniques; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009297:Nasal Mucosa / Q000473:pathology; D012189:Retrospective Studies; D012680:Sensitivity and Specificity