Referenced in: none

Automatically associated channels: Kir6.2

Title: Is transient tachypnoea of the newborn associated with polymorphisms in the epithelial sodium channel encoding gene? Investigation of the second transmembrane spanning domain of the alpha subunit.

Authors: E Landmann, M Schmidtpott, E Tutdibi, L Gortner

Journal, date & volume: Acta Paediatr., 2005 Mar , 94, 317-23

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16028650

Abstract
We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and influence its course.We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age [mean +/- SD]: 38.3 +/- 1.2 completed weeks; birthweight: 3088 +/- 426 g), 57 neonates with RDS (gestational age: 29.6 +/- 3.5 completed weeks; birthweight: 1272 +/- 638 g), and 50 healthy controls were enrolled prospectively.We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism.We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.