scholarly journals ABCA3 Gene Defect - Cause of Severe Respiratory Distress and Failure in Newborn

2021 ◽  
Vol 8 (11) ◽  
pp. 23-25
Author(s):  
Neetu Yadav ◽  
Nivedita Seehra ◽  
Satish Mishra
Keyword(s):  
Family History ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Neonatal Death ◽  
Distress Syndrome ◽  
Gene Defect ◽  
Severe Respiratory Distress ◽  
Missense Variation ◽  
Near Term ◽  
Male Neonate

Surfactant metabolism disorders are rare cause of RDS in term neonates. A near term male neonate presented with respiratory distress syndrome (required Surfactant multiple times) with family history of one still birth and one neonatal death due to RDS in previous siblings. A homozygous missense variation in exon 7 of the ABCA3 gene that results in the amino acid substitution of leucine for proline at codon 186 was detected. He died of severe respiratory failure even after multiple doses of surfactant and ventilation. Surfactant deficiency with ABCA3 gene mutation needs to be suspected in term neonate who present with respiratory distress syndrome with family history or neonatal death with respiratory distress. Keywords: ABCA3 gene defect, Respiratory distress syndrome (RDS), neonates, neonatal death.

Radiologic Observations in Severe Neonatal Respiratory Distress Syndrome Treated with the Isolated Phospholipid Fraction of Natural Surfactant

1987 ◽  
Vol 28 (4) ◽  
pp. 389-394 ◽  
Author(s):  
W. Mortensson ◽  
G. Noack ◽  
T. Curstedt ◽  
P. Herin ◽  
B. Robertson
Keyword(s):  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Randomized Clinical Trials ◽  
Distress Syndrome ◽  
Phospholipid Fraction ◽  
Neonatal Respiratory Distress Syndrome ◽  
Dramatic Improvement ◽  
Long Term Effects ◽  
Severe Respiratory Distress ◽  
Neonatal Respiratory Distress

Ten newborn babies with severe respiratory distress syndrome, all dependent on artificial ventilation, were treated via the airways with the isolated phospholipid fraction of bovine or porcine surfactant. After treatment with surfactant at a median age of 10.5h, there was in all patients a striking improvement of lung aeration in chest films, with a decrease in parenchymal fluid retention and in distension of bronchioli. These radiologic findings were associated with a dramatic improvement of oxygenation and a significant reduction of the right-to-left shunt. In spite of the rapid therapeutic response, four patients died from cerebral hemorrhage. One of the surviving patients developed bronchopulmonary dysplasia. Our findings document efficacy of this new surfactant preparation in the neonatal respiratory distress syndrome, but the long-term effects need to be further tested in randomized clinical trials.

Inhaled nitric oxide in very preterm infants with severe respiratory distress syndrome

2006 ◽  
Vol 95 (9) ◽  
pp. 1116-1123 ◽  
Author(s):  
Carlo Dani ◽  
Giovanna Bertini ◽  
Marco Pezzati ◽  
Luca Filippi ◽  
Alessandra Cecchi ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Preterm Infants ◽  
Distress Syndrome ◽  
Inhaled Nitric Oxide ◽  
Severe Respiratory Distress ◽  
Very Preterm Infants ◽  
Very Preterm ◽  
Severe Respiratory Distress Syndrome

Passage of the First Stool in Very Low Birth Weight Infants

PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 1005-1007
Author(s):  
Meenakshi K. Jhaveri ◽  
Savitri P. Kumar
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Distress Syndrome ◽  
Very Low Birth Weight ◽  
Gut Hormones ◽  
Low Birth Weight Infants ◽  
Severe Respiratory Distress ◽  
Severe Respiratory Distress Syndrome

Times of first stool passage were studied in 171 infants who weighed less than 1,500 g at birth. Delayed passage (greater than 48 hours) was noted in 20.4% of this group. Significant differences were noted between the delayed and nondelayed groups for gestational age, presence of severe respiratory distress syndrome, and the time of the first enteral feeding. In very low birth weight infants, delay in the passage of the first stool is a common occurrence. This delay is probably due to physiologic immaturity of the motor mechanisms of the gut, lack of triggering effect of enteral feeds on gut hormones, and the presence of severe respiratory distress syndrome, which may singly or in concert adversely affect gastrointestinal motility.

Effectiveness of Curosurf for Severe Respiratory Distress Syndrome: A Case-Control Study

Neonatology ◽  
1992 ◽  
Vol 61 (1) ◽  
pp. 21-25 ◽  
Author(s):  
Adolf Valls-i-Soler ◽  
Mikel Lizarraga ◽  
Jon López de Heredia ◽  
Lourdes Roman ◽  
Edita Hernáez ◽  
...  
Keyword(s):  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Distress Syndrome ◽  
Case Control Study ◽  
Case Control ◽  
Severe Respiratory Distress ◽  
Severe Respiratory Distress Syndrome ◽  
Control Study

Double-Blind, Randomized Trial of a Calf Lung Surfactant Extract Administered at Birth to Very Premature Infants for Prevention of Respiratory Distress Syndrome

PEDIATRICS ◽  
1985 ◽  
Vol 76 (4) ◽  
pp. 593-599 ◽  
Author(s):  
Donald L. Shapiro ◽  
Robert H. Notter ◽  
Frederick C. Morin ◽  
Karl S. Deluga ◽  
Leonard M. Golub ◽  
...  
Keyword(s):  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Premature Infants ◽  
Neonatal Intensive Care ◽  
Distress Syndrome ◽  
Lung Surfactant ◽  
Treated Group ◽  
Control Group ◽  
Double Blind ◽  
Severe Respiratory Distress

Organic solvent extraction of surfactant obtained by lavage of calf lungs yields a highly surfaceactive material. A double blind, randomized clinical trial to determine the effect of this material on respiratory distress syndrome in premature infants was initiated in the Neonatal Intensive Care Unit at the University of Rochester in December 1983. Infants 25 to 29 weeks gestational age were eligible for entry into the trial. At the time of this interim analysis 32 patients had been randomly selected and entered into the trial, 16 surfactant-treated patients and 16 in a control group who received only saline. At birth, intrapulmonary instillation of the calf lung surfactant extract dispersed in saline or saline alone occurred in the delivery room immediately after intubation and prior to ventilation; infants were then ventilated and treated as usual. At 6, 12, 24, 48, and 72 hours after birth, the severity of respiratory distress was categorized as either minimal, intermediate, or severe based on oxygen and mean airway pressure requirements. Differences observed at six hours after birth were of marginal significance, but at 12 and 24 hours the surfactant-treated group had significantly (P < .01) less severe respiratory distress compared with the control group. Differences between treated and control infants were not statistically significant at 48 and 72 hours after birth. In four surfactant-treated infants the severity of respiratory distress worsened between 24 and 48 hours after birth, suggesting that one dose of surfactant at birth may not be sufficient for some infants.

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