What does this research mean for the field?

Early genetic testing and targeted respiratory interventions are crucial for promptly diagnosing and managing Primary Ciliary Dyskinesia in neonates presenting with unexplained respiratory distress and situs inversus to prevent irreversible lung injury. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

This study aims to analyze the clinical characteristics of two premature twins diagnosed with PCD and improve diagnostic and treatment strategies.

June 1, 2026British Journal of Hospital Medicine1 citationsOpen Access

Primary Ciliary Dyskinesia With Situs Inversus in Twin Premature Infants: Two Case Reports

RMRui MaYuntianhua Group (China)SYShuangyu YangPuer University LZLing ZhangQinghai University

Key Points

This study aims to analyze the clinical characteristics of two premature twins diagnosed with PCD and improve diagnostic and treatment strategies.
Case presentation of twin girls diagnosed with PCD during neonatal period.
Genetic testing conducted to identify mutations responsible for PCD.
Treatment involved non-invasive ventilator-assisted ventilation and several supportive therapies.
Gene mutation identified as the cause of PCD in both infants.
Following comprehensive treatment, both patients showed improvement and were discharged.
Early genetic testing is emphasized for timely diagnosis and intervention in neonates with respiratory distress.

Abstract

AIMS/BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by structural or functional abnormalities of the cilia, which prevent proper oscillation. Patients typically present with symptoms such as chronic respiratory infections, bronchiectasis, and, in approximately half of the cases, inversion of internal organs. Due to its diverse clinical manifestations and lack of specificity, PCD is often misdiagnosed or underdiagnosed, and diagnosis in the neonatal period remains notably challenging. Therefore, this study aimed to analyse the clinical characteristics of the two cases, optimise PCD treatment, and improve the accuracy and timeliness of PCD diagnosis. CASE PRESENTATION: weeks of gestation who were diagnosed with PCD during the neonatal period. The patients, twin girls conceived naturally, were transferred to Department of Pediatrics after cesarean delivery at Pu'er People's Hospital on 26 September 2024, at 11:24, due to cyanosis and shortness of breath after birth. Prenatal examination at 13 weeks revealed "dextrocardia with abdominal situs inversus" in both fetuses. Delivery was by emergency cesarean section due to premature rupture of membranes. After birth, the twins presented with respiratory distress symptoms, including cyanosis and shortness of breath. Bedside chest radiography revealed hyaline membrane disease, dextrocardia, and abdominal situs inversus. Treatments such as non-invasive ventilator-assisted ventilation and anti-infective therapy were initiated after admission. However, the patients repeatedly experienced breathing difficulties, alternating atelectasis in both lungs, difficulty weaning from the ventilator, and episodes of desaturation. RESULTS: ) gene mutation as the cause of PCD. Following treatment with non-invasive ventilator-assisted ventilation, oxygen therapy in an incubator, nebulization (e.g., hypertonic saline), patting back and sputum aspiration, prone position ventilation, and postural drainage, both patients improved and were discharged. CONCLUSION: In neonates with unexplained respiratory distress, especially those with situs inversus, early refinement of diagnostic tools, including genetic testing, is crucial to confirm PCD promptly, enable timely intervention, and prevent irreversible lung injury.

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