Which side are they on? A review and case series of diagnosing primary ciliary dyskinesias in low- or middle-income countries.

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic condition with a variable clinical presentation, making its diagnosis a challenge. The authors describe two unrelated sibling pairs with PCD: adult siblings in the first and perinatal/neonatal in the second. Both families highlight the commoner and less common clinical manifestations of PCD. The authors use these cases to highlight (1) the current understanding of the underlying genetic and pathophysiological mechanisms of PCD, (2) the range of cardiac and respiratory features of PCD across a wide age-range (3), aspects of history and clinical exam that should raise suspicion of PCD, and (4) the role of NGS gene panel testing in confirmation of diagnosis.

Keywords

• pcd
• bronchiectasis
• kartagener
• situs inversus
• heterotaxy
• isomerism
• situs ambiguus
• ngs panel sequencing