Detailed Information on Publication Record
2020
A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report
JOUZA, Martin, Tomáš JIMRAMOVSKÝ, Eva SLOUKOVÁ, Jakub PECL, Anna SEEHOFNEROVÁ et. al.Basic information
Original name
A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report
Authors
JOUZA, Martin (203 Czech Republic, belonging to the institution), Tomáš JIMRAMOVSKÝ (203 Czech Republic, belonging to the institution), Eva SLOUKOVÁ (203 Czech Republic, belonging to the institution), Jakub PECL (203 Czech Republic, belonging to the institution), Anna SEEHOFNEROVÁ (203 Czech Republic, belonging to the institution), Marta JEŽOVÁ (203 Czech Republic), Milan URÍK (703 Slovakia, belonging to the institution), Lumír KUNOVSKÝ (203 Czech Republic, belonging to the institution), Kateřina SLABÁ (203 Czech Republic, belonging to the institution), Petr ŠTOURAČ (203 Czech Republic, belonging to the institution), Martina KLINCOVÁ (703 Slovakia, belonging to the institution), Jaroslav A. HUBÁČEK (203 Czech Republic) and Petr JABANDŽIEV (203 Czech Republic, guarantor, belonging to the institution)
Edition
Frontiers in Genetics, Laussane, FRONTIERS MEDIA SA, 2020, 1664-8021
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
10603 Genetics and heredity
Country of publisher
Switzerland
Confidentiality degree
není předmětem státního či obchodního tajemství
References:
Impact factor
Impact factor: 4.599
RIV identification code
RIV/00216224:14110/20:00116310
Organization unit
Faculty of Medicine
UT WoS
000570669100001
Keywords in English
surfactant; ABCA3; respiratory distress syndrome; respiratory failure; children
Tags
International impact, Reviewed
Změněno: 13/5/2021 08:03, Mgr. Tereza Miškechová
Abstract
V originále
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 of ABCA3 functional mutations leading to the p.Pro147Leu and p.Pro246Leu exchanges. The second identified mutation of ABCA3 c.737C>T had not to date been described in connection with primary surfactant deficiency.