Never too old for an inherited condition

Abstract

Primary ciliary dyskinesia is an uncommon, inherited condition causing progressive suppurative airway lung disease with subsequent bronchiectasis, chronic rhinitis-sinusitis, deafness and reduced fertility. Diagnosis is often delayed by lack of awareness of the condition in the medical community and limited access to the few centres in Australia able to do full diagnostic testing. This report details the late diagnosis of primary ciliary dyskinesia in two adults who have had long-standing interactions with medical services but in whom the diagnosis was never considered or even dismissed. Greater awareness of the condition will reduce time to diagnosis, prevent administration of ineffective therapy and allow earlier institution of targeted therapy.