A fatal case of congenital surfactant deficiency caused by ABCA 3 gene mutation in a newborn Authors

Ghimire, Deen Dayalu; Joshi, Suchita

Publication:
A fatal case of congenital surfactant deficiency caused by ABCA 3 gene mutation in a newborn Authors

creativeworkseries.issn	ISSN 2822-1893 eISSN 2822-2016
dc.contributor.author	Ghimire, Deen Dayalu
dc.contributor.author	Joshi, Suchita
dc.date.accessioned	2026-02-05T04:43:42Z
dc.date.available	2026-02-05T04:43:42Z
dc.date.issued	2022
dc.description	Deen Dayalu Ghimire Nepal Mediciti Hospital, Lalitpur, Nepal Suchita Joshi Nepal Mediciti Hospital, Lalitpur, Nepal
dc.description.abstract	Abstract: Respiratory distress syndrome is a common cause for admission in neonatal intensive care unit and is predominant in preterm infants. Rarely, this can cause respiratory distress in full term infants. Here, we present a case of a full term baby without any other obvious cause for respiratory distress and transiently responding to surfactant administration, who eventually died at 1 month of age. As her elder sibling had also died following similar course of illness, congenital surfactant deficiency was suspected and blood sample for genetic testing was sent. This revealed ABCA 3 mutation as the cause of congenital surfactant deficiency.
dc.identifier	https://doi.org/10.3126/nrj.v1i1.45303
dc.identifier.uri	https://hdl.handle.net/20.500.14572/4512
dc.language.iso	en_US
dc.publisher	Nepalese Respiratory Society
dc.subject	Respiratory distress syndrome
dc.subject	Congenital surfactant deficiency
dc.title	A fatal case of congenital surfactant deficiency caused by ABCA 3 gene mutation in a newborn Authors
dc.type	Article
dspace.entity.type	Publication
local.article.type	Paediatric Respiratory Medicine
oaire.citation.endPage	42
oaire.citation.startPage	40
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relation.isJournalIssueOfPublication.latestForDiscovery	08a1c199-f08d-4411-9c94-fab2af2925ad
relation.isJournalOfPublication	91ea7cc8-46b2-4796-94bd-2998c28b5ebb