Home respiratory care in primary ciliary dyskinesia:

case report

Abstract

Primary ciliary dyskinesia is a hereditary disease in which a dysfunction of the hair cells present in the respiratory system occurs. Its prevalence ranges from 1: 10,000 to 1: 20,000 live births and, as a result of its low frequency, it is generally underdiagnosed. Patients with primary ciliary dyskinesia experience abnormal mucociliary clearance, which leads to the recurrent presentation of respiratory disorders, therefore proper follow-up by health professionals is imperative. Currently there is no etiological treatment for this pathology, however home respiratory therapy can help reduce respiratory complications, improve symptoms and reduce the frequency of hospitalizations given that it allows a strict monitoring. Objective: to describe the case of a patient diagnosed with Primary Ciliary Dyskinesia, with follow-up by respiratory therapy at home. Case description: Female patient of 11 years of age with past history of esophageal atresia type III, operated on in the neonatal period; gastroesophageal reflux managed surgically, and respiratory failure at 2 year of age; throughout her childhood she developed recurrent episodes of mild dyspnea, productive cough and respiratory infections. At 10 years of age, through ultrastructure studies, she was diagnosed with primary ciliary dyskinesia, and home monitoring and intervention was initiated using respiratory therapy. Conclusion: Home respiratory care in patients with primary ciliary dyskinesia and the strict follow-up involved can contribute to improve respiratory symptoms and reduce the complications associated with this disease.