The First Report on Co-existence of Cystic Fibrosis with Primary Ciliary Dyskinesia

Abstract

Introduction: Cystic fibrosis (CF) and Primary ciliary dyskinesia (PCD) are inherited diseases that impair mucociliary clearance. PCD causes ciliary defect in the airways, making them unable to beat normally (ciliary dyskinesia), or absent altogether (ciliary aplasia) while CFTR mutation leads to Epithelium Sodium Channel dysregulation. The association of both diseases and its combination with sickle cell disease (SS disease) has never been described before in the medical literature. Methods: Retrospective study was conducted for a consanguineous family in which data collected for clinical features, laboratory findings, radiological reports, pulmonary function tests, and genetic testing. Results: Nine children presented with respiratory, gastrointestinal, and musculoskeletal symptoms. The most common respiratory symptoms were recurrent chest infection and recurrent rhino-sinusitis. Laboratory results showed that all nine siblings were carriers for sickle cell diseases. Three siblings were affected with PCD, and one sibling was affected with both CF and PCD. Six siblings were carriers for PCD mutation. Seven siblings were carriers for CFTR mutation, and one was negative for it, but was a carrier for both PCD and sickle cell diseases. Father is affected with sickle cell disease but is carrier for both CF and PCD mutations. The mother was a carrier for both CF and PCD diseases but is negative for sickle cell disease. Clinical, biochemical, and radiological features showed no difference except bronchiectasis in genetically affected children. Conclusion: The combination of both CF and PCD is not uncommon. Screening for both diseases is recommended in the presence of multiple affected family members.