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

M. Jouza, T. Jimramovsky, E. Sloukova, J. Pecl, A. Seehofnerova, M. Jezova, M. Urik, L. Kunovsky, K. Slaba, P. Stourac, M. Klincova, JA. Hubacek, P. Jabandziev,

. 2020 ; 11 (-) : 568303. [pub] 20200831

Jazyk angličtina Země Švýcarsko

Typ dokumentu kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc21002097

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.

Citace poskytuje Crossref.org

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$a Respiratory distress syndrome caused by a secondary surfactant deficiency is one of the most common diagnoses requiring admission to the Neonatal Intensive Care Unit. We illustrate the case of a term female newborn without prenatal and peripartal risks. There had been significant signs of respiratory distress 4 h after delivery. The condition gradually worsened to the point of needing oscillatory ventilation. The most common infectious and non-infectious causes were excluded. Considering the course of illness, a congenital surfactant deficiency was suspected. There nevertheless was no significant improvement after administration of surfactant. Following a short period of palliative care, the child died at 34 days of age due to respiratory failure. DNA diagnostics revealed compound heterozygosity of ABCA3 functional mutations leading to the p.Pro147Leu and p.Pro246Leu exchanges. The second identified mutation of ABCA3 c.737C>T had not to date been described in connection with primary surfactant deficiency.
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$a Pecl, Jakub $u Department of Pediatrics, University Hospital Brno, Brno, Czechia. Faculty of Medicine, Masaryk University, Brno, Czechia.
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$a Seehofnerova, Anna $u Faculty of Medicine, Masaryk University, Brno, Czechia. Department of Pediatric Radiology, University Hospital Brno, Brno, Czechia.
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$a Urik, Milan $u Faculty of Medicine, Masaryk University, Brno, Czechia. Department of Pediatric Otorhinolaryngology, University Hospital Brno, Brno, Czechia.
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$a Kunovsky, Lumir $u Faculty of Medicine, Masaryk University, Brno, Czechia. Department of Gastroenterology and Internal Medicine, University Hospital Brno, Brno, Czechia. Department of Surgery, University Hospital Brno, Brno, Czechia.
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$a Slaba, Katerina $u Department of Pediatrics, University Hospital Brno, Brno, Czechia. Faculty of Medicine, Masaryk University, Brno, Czechia.
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$a Hubacek, Jaroslav A $u Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czechia. 3rd Department of Internal Medicine, 1st Faculty of Medicine, Charles University, Prague, Czechia.
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$a Jabandziev, Petr $u Department of Pediatrics, University Hospital Brno, Brno, Czechia. Faculty of Medicine, Masaryk University, Brno, Czechia. Central European Institute of Technology, Brno, Czechia.
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