Journal
FRONTIERS IN GENETICS
Volume 11, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2020.568303
Keywords
surfactant; ABCA3; respiratory distress syndrome; respiratory failure; children
Categories
Funding
- Ministry of Health of the Czech Republic -conceptual development of research organization (FNBr) [65269705]
- Ministry of Health of the Czech Republic - conceptual development of research organization [IKEM -00023001]
Ask authors/readers for more resources
Respiratory distress syndrome caused by a secondary surfactant deficiency is one of the most common diagnoses requiring admission to the Neonatal Intensive Care Unit. We illustrate the case of a term female newborn without prenatal and peripartal risks. There had been significant signs of respiratory distress 4 h after delivery. The condition gradually worsened to the point of needing oscillatory ventilation. The most common infectious and non-infectious causes were excluded. Considering the course of illness, a congenital surfactant deficiency was suspected. There nevertheless was no significant improvement after administration of surfactant. Following a short period of palliative care, the child died at 34 days of age due to respiratory failure. DNA diagnostics revealed compound heterozygosity ofABCA3functional mutations leading to the p.Pro147Leu and p.Pro246Leu exchanges. The second identified mutation ofABCA3c.737C>T had not to date been described in connection with primary surfactant deficiency.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available