In:
Journal of Neonatology, SAGE Publications, Vol. 36, No. 3 ( 2022-09), p. 250-254
Abstract:
The adenosine triphosphate binding cassette member A3 (ABCA3) is a lipid transporter involved in pulmonary surfactant biogenesis. ABCA3 deficiency is increasingly being recognized as a cause of respiratory distress syndrome in term neonates. The clinical spectrum and severity of lung disease caused by ABCA3 mutations vary widely. We present a term newborn who presented respiratory distress short afterbirth. Despite treatment and supportive care, she developed a refractory progressive hypoxic respiratory failure and she died. She received repeated surfactant doses always with transient improvement. She was found to be a compound heterozygote for 2 non-previously described ABCA3 gene mutations, one inherited from each parent.
Type of Medium:
Online Resource
ISSN:
0973-2179
,
0973-2187
DOI:
10.1177/09732179221084673
Language:
English
Publisher:
SAGE Publications
Publication Date:
2022
detail.hit.zdb_id:
2496171-1