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Correlation of Presentation and Pathologic Condition in Primary Ciliary Dyskinesia
Gregory Y. Chin, MD;
David E. Karas, MD;
Michael Kashgarian, MD
Arch Otolaryngol Head Neck Surg. 2002;128:1292-1294.
Objectives To better characterize primary ciliary dyskinesia (PCD) and improve the diagnosis of this uncommon disorder.
Study Design and Setting 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 ( 2 test, 24.85; P<.001). In contrast, patients who present with multiple manifestations are highly likely to have PCD ( 2 test, 22.2; P<.001). This information may assist the clinician in the diagnosis of PCD.
From the Department of OtolaryngologyHead and Neck Surgery (Dr Chin), University of Southern California Keck School of Medicine, Los Angeles; and the Departments of Surgery, Section of Otolaryngology (Dr Karas) and Pathology (Dr Kashgarian), Yale University School of Medicine, New Haven, Conn.
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