Primary Ciliary Dyskinesia as a Cause of Repeating Atelectasis in the Neonatal Period

Autor: Renata de Araújo Monteiro Yoshida, Celso Moura Rebello, Romy Schmidt Brock Zacharias, Arno Noberto Warth, Amanda Dias de Moraes, Arlete Esteves Lopes Primo, Luiz Vicente Ribeiro Ferreira da Silva Filho, Daniela Rodriguez Trujillo
Rok vydání: 2020
Předmět:
Zdroj: The American Journal of Case Reports
ISSN: 1941-5923
DOI: 10.12659/ajcr.921949
Popis: Patient: Male, newborn Final Diagnosis: Primary ciliary dyskinesia Symptoms: Atelectasis • Respiratory distress Medication: — Clinical Procedure: Follow-up Specialty: Pulmonology Objective: Congenital defects/diseases Background: Primary ciliary dyskinesia (PCD) is a disease characterized by motor ciliary dysfunction, which leads to the accumulation of secretions in the lower airways and, consequently, to atelectasis and repeated infections. During the neonatal period, diagnosis can be difficult because the symptoms are frequently associated with other respiratory diseases common in neonates. The laterality defects should warn the clinician of the need for further investigation using clinical criteria, but the confirmation depends on a genetic test. Case Report: The objective of this report is to present a case of PCD manifesting in the neonatal period that was diagnosed due to respiratory failure associated with recurrent atelectasis and situs inversus totalis. Conclusions: This disease is not well known by neonatologists, but early diagnosis decreases morbidity and improves patient quality of life.
Databáze: OpenAIRE