A Newly Observed Mutation of the ABCA3 Gene Causing Lethal
Respiratory Failure of a Full-Term Newborn: A Case Report

J 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.

Základní údaje

Originální název

A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report

Autoři

JOUZA, Martin (203 Česká republika, domácí), Tomáš JIMRAMOVSKÝ (203 Česká republika, domácí), Eva SLOUKOVÁ (203 Česká republika, domácí), Jakub PECL (203 Česká republika, domácí), Anna SEEHOFNEROVÁ (203 Česká republika, domácí), Marta JEŽOVÁ (203 Česká republika), Milan URÍK (703 Slovensko, domácí), Lumír KUNOVSKÝ (203 Česká republika, domácí), Kateřina SLABÁ (203 Česká republika, domácí), Petr ŠTOURAČ (203 Česká republika, domácí), Martina KLINCOVÁ (703 Slovensko, domácí), Jaroslav A. HUBÁČEK (203 Česká republika) a Petr JABANDŽIEV (203 Česká republika, garant, domácí)

Vydání

Frontiers in Genetics, Laussane, FRONTIERS MEDIA SA, 2020, 1664-8021

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.599

Kód RIV

RIV/00216224:14110/20:00116310

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.3389/fgene.2020.568303

UT WoS

000570669100001

Klíčová slova anglicky

surfactant; ABCA3; respiratory distress syndrome; respiratory failure; children

Štítky

14110213, 14110223, 14110317, 14110319, 14110322, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 13. 5. 2021 08:03, Mgr. Tereza Miškechová

Anotace

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.

Citovat

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 a 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, roč. 11, August 2020, s. 1-5. ISSN 1664-8021. Dostupné z: https://dx.doi.org/10.3389/fgene.2020.568303.

@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 a 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, roč.~11, August 2020, s.~1-5. ISSN~1664-8021. Dostupné z: https://dx.doi.org/10.3389/fgene.2020.568303.

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