| JOUZA, Martin, Tomáš JIMRAMOVSKÝ, Eva SLOUKOVÁ, Jakub PECL, Anna SEEHOFNEROVÁ, Marta JEŽOVÁ, Milan URÍK, Lumír KUNOVSKÝ, Kateřina SLABÁ, Petr ŠTOURAČ, Martina KLINCOVÁ, Jaroslav A. HUBÁČEK and Petr JABANDŽIEV. A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report. Frontiers in Genetics. Laussane: FRONTIERS MEDIA SA, 2020, vol. 11, August 2020, p. 1-5. ISSN 1664-8021. Available from: https://dx.doi.org/10.3389/fgene.2020.568303. |
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@article{1676643,
author = {Jouza, Martin and Jimramovský, Tomáš and Slouková, Eva and Pecl, Jakub and Seehofnerová, Anna and Ježová, Marta and Urík, Milan and Kunovský, Lumír and Slabá, Kateřina and Štourač, Petr and Klincová, Martina and Hubáček, Jaroslav A. and Jabandžiev, Petr},
article_location = {Laussane},
article_number = {August 2020},
doi = {http://dx.doi.org/10.3389/fgene.2020.568303},
keywords = {surfactant; ABCA3; respiratory distress syndrome; respiratory failure; children},
language = {eng},
issn = {1664-8021},
journal = {Frontiers in Genetics},
title = {A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report},
url = {https://www.frontiersin.org/articles/10.3389/fgene.2020.568303/full},
volume = {11},
year = {2020}
}
TY - JOUR
ID - 1676643
AU - Jouza, Martin - Jimramovský, Tomáš - Slouková, Eva - Pecl, Jakub - Seehofnerová, Anna - Ježová, Marta - Urík, Milan - Kunovský, Lumír - Slabá, Kateřina - Štourač, Petr - Klincová, Martina - Hubáček, Jaroslav A. - Jabandžiev, Petr
PY - 2020
TI - A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report
JF - Frontiers in Genetics
VL - 11
IS - August 2020
SP - 1-5
EP - 1-5
PB - FRONTIERS MEDIA SA
SN - 16648021
KW - surfactant
KW - ABCA3
KW - respiratory distress syndrome
KW - respiratory failure
KW - children
UR - https://www.frontiersin.org/articles/10.3389/fgene.2020.568303/full
L2 - https://www.frontiersin.org/articles/10.3389/fgene.2020.568303/full
N2 - 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.
ER -
JOUZA, Martin, Tomáš JIMRAMOVSKÝ, Eva SLOUKOVÁ, Jakub PECL, Anna SEEHOFNEROVÁ, Marta JEŽOVÁ, Milan URÍK, Lumír KUNOVSKÝ, Kateřina SLABÁ, Petr ŠTOURAČ, Martina KLINCOVÁ, Jaroslav A. HUBÁČEK and Petr JABANDŽIEV. A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report. \textit{Frontiers in Genetics}. Laussane: FRONTIERS MEDIA SA, 2020, vol.~11, August 2020, p.~1-5. ISSN~1664-8021. Available from: https://dx.doi.org/10.3389/fgene.2020.568303.
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