First report of DNAI2-associated primary ciliary dyskinesia in Libya: A case from a nonconsanguineous marriage
Abstract
Primary ciliary dyskinesia (PCD) is an autosomal recessive condition resulting from defects in motile cilia structure and function, impairing mucociliary clearance. This defect predisposes such patients to frequent sinopulmonary infections. The chronic productive cough is a key symptom, with progressive bronchiectasis as a common accompaniment, although diagnosis is delayed, with the mean age at diagnosis being about 11 years. Recent studies have indicated that PCD is highly genetically heterogeneous with more than 50 PCD genes identified to date. Herein, we describe an 11-year-old child with clinical and radiologic characteristics of PCD, from a non-consanguineous family, in whom genetic testing indicated a rare homozygous mutation in DNAI2. This case emphasizes the importance of a high level of suspicion of PCD in children with a history of recurrent, unexplained respiratory infections. The ability to diagnose this new disease at the molecular level rapidly is significant for early and specific treatment, and emphasizes the critical importance of a close cooperation between the clinicians and the family for effective care and control of the patient. Our results support inclusion of comprehensive genetic testing in the first tier diagnostic approach to accelerate the time to accurate diagnosis of PCD.
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