Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress.

Goutaki, Myrofora; Halbeisen, Florian Samuel; Barbato, Angelo; Crowley, Suzanne; Harris, Amanda; Hirst, Robert A; Karadag, Bülent; Martinu, Vendula; Morgan, Lucy; O'Callaghan, Christopher; Ozçelik, Ugur; Scigliano, Sergio; Ucros, Santiago; Yiallouros, Panayiotis; Schulzke, Sven M; Kuehni, Claudia E (2020). Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress. Journal of clinical medicine, 9(9), E2871. MDPI 10.3390/jcm9092871

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Neonatal respiratory distress (NRD) is common among infants with primary ciliary dyskinesia (PCD), but we do not know whether affected neonates receive a timely diagnosis. We used data from the international PCD cohort and assessed the proportion of patients with PCD who had a history of NRD and their age at diagnosis, stratifying by presence of laterality defects. First we analyzed data from all participants diagnosed after 2000, followed by individuals from a subgroup diagnosed using stricter criteria. Among the 1375 patients in the study, 45% had a history of NRD and 42% had laterality defects. Out of the 476 children with definite PCD diagnosis, 55% had a history of NRD and 50% had laterality defects. Overall, 30% of children with PCD were diagnosed during the first 12 months of life. This varied from 13% in those with situs solitus and no NRD, to 21% in those with situs solitus and NRD, 33% in those with situs anomalies but no NRD, and 52% in those with both situs anomalies and NRD. Our results suggest that we need to improve our knowledge of the neonatal presentation of infants with PCD and apply it so that these patients will receive appropriate care sooner.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM)
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Pneumology

UniBE Contributor:

Goutaki, Myrofora; Halbeisen, Florian Samuel and Kühni, Claudia

Subjects:

600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services

ISSN:

2077-0383

Publisher:

MDPI

Funders:

[4] Swiss National Science Foundation

Language:

English

Submitter:

Beatrice Minder Wyssmann

Date Deposited:

19 Oct 2020 09:50

Last Modified:

03 Dec 2020 08:45

Publisher DOI:

10.3390/jcm9092871

PubMed ID:

32899853

Uncontrolled Keywords:

laterality defect neonatal respiratory distress orphan diseases primary ciliary dyskinesia

BORIS DOI:

10.7892/boris.147133

URI:

https://boris.unibe.ch/id/eprint/147133

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