Jouza Martin, Jimramovsky Tomas, Sloukova Eva, Pecl Jakub, Seehofnerova Anna, Jezova Marta, Urik Milan, Kunovsky Lumir, Slaba Katerina, Stourac Petr, Klincova Martina, Hubacek Jaroslav A, Jabandziev Petr
Department of Pediatrics, University Hospital Brno, Brno, Czechia.
Faculty of Medicine, Masaryk University, Brno, Czechia.
Front Genet. 2020 Aug 31;11:568303. doi: 10.3389/fgene.2020.568303. eCollection 2020.
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 functional mutations leading to the p.Pro147Leu and p.Pro246Leu exchanges. The second identified mutation of c.737C>T had not to date been described in connection with primary surfactant deficiency.
由继发性表面活性物质缺乏引起的呼吸窘迫综合征是最常见的需要入住新生儿重症监护病房的诊断之一。我们举例说明一名足月儿女婴的病例，其无产前和围产期风险。出生后4小时出现明显的呼吸窘迫体征。病情逐渐恶化至需要振荡通气。排除了最常见的感染性和非感染性病因。考虑到病程，怀疑为先天性表面活性物质缺乏。然而，给予表面活性物质后仍无明显改善。经过短时间的姑息治疗，患儿于34日龄时因呼吸衰竭死亡。DNA诊断显示存在导致p.Pro147Leu和p.Pro246Leu置换的功能性突变的复合杂合性。第二个鉴定出的c.737C>T突变迄今尚未与原发性表面活性物质缺乏相关联进行描述。
