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 α subunit

Acta Paediatrica, International Journal of Paediatrics

Volumn 94, Issue 3, 2005, Pages 317-323

  Landmann, E ^a   Schmidtpott, M ^a   Tutdibi, E ^a   Gortner, L ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

Epithelial sodium channel; Newborn; Premature infant; Respiratory distress syndrome; Transient tachypnoea of the newborn

Indexed keywords

SODIUM CHANNEL;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE ASSOCIATION; DISEASE COURSE; EXON; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GESTATIONAL AGE; HUMAN; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; TACHYPNEA;

AMINO ACID SEQUENCE; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; EPITHELIAL SODIUM CHANNEL; EXONS; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; LUNG; MUTAGENESIS, SITE-DIRECTED; POLYMORPHISM, GENETIC; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SODIUM CHANNELS;

EID: 16844370114     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250410023287     Document Type: Article

References (37)

1. Avery ME, Gatewood OB, Brumley G. Transient tachypnea of newborn. Possible delayed resorption of fluid at birth. Am J Dis Child 1966;111:380-5.
2. Miller LK, Calenoff L, Boehm JJ, Riedy MJ. Respiratory distress in the newborn. JAMA 1980;243:1176-9.
3. Taylor PM, Allen AC, Stinson DA. Benign unexplained respiratory distress of the newborn infant. Pediatr Clin North Am 1971;18:975-1004.
4. Matalon S, Lazrak A, Jain L, Eaton DC. Invited review: biophysical properties of sodium channels in lung alveolar epithelial cells. J Appl Physiol 2002;93:1852-9.
5. Rossier BC, Pradervand S, Schild L, Hummler E. Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors. Annu Rev Physiol 2002;64:877-97.
6. Canessa CM, Schild L, Buell G, Thorens B, Gautschi I, Horisberger JD, et al. Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits. Nature 1994;367:463-7.
7. Kellenberger S, Schild L. Epithelial sodium channel/degenerin family of ion channels: a variety of functions for a shared structure. Physiol Rev 2002;82:735-67.
8. Alvarez de la Rosa D, Canessa CM, Fyfe GK, Zhang P. Structure and regulation of amiloride-sensitive sodium channels. Annu Rev Physiol 2000;62:573-94.
9. Hummler E, Horisberger JD. Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases. Am J Physiol 1999;276:G567-71.
10. Hummler E, Rossier BC. Physiological and pathophysiological role of the epithelial sodium channel in the control of blood pressure. Kidney Blood Press Res 1996;19:160-5.
11. + channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype. Proc Natl Acad Sci USA 1999;96:1727-31.
12. +) channel subunit. Am J Respir Cell Mol Biol 2002;27:314-9.
13. Arai K, Zachman K, Shibasaki T, Chrousos GP. Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? J Clin Endocrinol Metab 1999;84:2434-7.
14. Xue MZ, Bonny O, Morgenthaler S, Bochud M, Mooser V, Thilly WG, et al. Use of constant denaturant capillary electrophoresis of pooled blood samples to identify single-nucleotide polymorphisms in the genes (Scnn1a and Scnn1b) encoding the alpha and beta subunits of the epithelial sodium channel. Clin Chem 2002;48:718-28.
15. Ambrosius WT, Bloem LJ, Zhou L, Rebhun JF, Snyder PM, Wagner MA, et al. Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension. Hypertension 1999;34:631-7.
16. Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, et al. Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet 2003;112:91-7.
17. Saxena A, Hanukoglu I, Saxena D, Thompson RJ, Gardiner RM, Hanukoglu A. Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. J Clin Endocrinol Metab 2002;87:3344-50.
18. Schaedel C, Marthinsen L, Kristoffersson AC, Kornfalt R, Nilsson KO, Orlenius B, et al. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J Pediatr 1999;135:739-45.
19. Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, Bennett W, et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 1999;341:156-62.
20. + channel expression is one of the pathogenetic mechanisms leading to human neonatal respiratory distress syndrome. Proc Assoc Am Physicians 1996;108:345-55.
21. Pitkänen O. Lung epithelial ion transport in neonatal lung disease. Biol Neonate 2001;80:14-7.
22. Barker PM, Gowen CW, Lawson EE, Knowles MR. Decreased sodium ion absorption across nasal epithelium of very premature infants with respiratory distress syndrome. J Pediatr 1997;130:373-7.
23. Langloh AL, Berdiev B, Ji HL, Keyset K, Stanton BA, Benos DJ. Charged residues in the M2 region of alpha-hENaC play a role in channel conductance. Am J Physiol Cell Physiol 2000;278:C277-91.
24. Li XJ, Xu RH, Guggino WB, Snyder SH. Alternatively spliced forms of the alpha subunit of the epithelial sodium channel: distinct sites for amiloride binding and channel pore. Mol Pharmacol 1995;47:1133-40.
25. + channel function. J Biol Chem 1995;270:11735-7.
26. Wesenberg RL, Graven SN, McCabe EB. Radiological findings in wet-lung disease. Radiology 1971;98:69-74.
27. Manroe BL, Weinberg AG, Rosenfeld CR, Browne R. The neonatal blood count in health and disease. I. Reference values for neurrophilic cells. J Pediatr 1979;95:89-98.
28. Wiswell TE, Bent RC. Meconium staining and the meconium aspiration syndrome. Unresolved issues. Pediatr Clin North Am 1993;40:955-81.
29. Couchard M, Polge J, Bomsel F. Hyaline membrane disease: diagnosis, radiologic surveillance, treatment and complications. Ann Radiol 1974;17:669-83.
30. Myers RM, Maniatis T, Lerman LS. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:501-27.
31. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463-7.
32. Macek M, Mercier B, Mackova A, Miller PW, Hamosh A, Ferec C, et al. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 1997;9:136-47.
33. Sheffield VC, Cox DR, Lerman LS, Myers RM. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 1989;86:232-6.
34. + channel in the developing rat lung. Am J Physiol 1993;265:C491-6.
35. Yasui M, Serlachius E, Lofgren M, Belusa R, Nielsen S, Aperia A. Perinatal changes in expression of aquaporin-4 and other water and ion transporters in rat lung. J Physiol 1997;505:3-11.
36. + channels is maintained in a mouse model of Liddle's syndrome. J Am Soc Nephrol 2003;14:2219-28.
37. Baker E, Jeunemaitre X, Portal AJ, Grimbert P, Markandu N, Persu A, et al. Abnormalities of nasal potential difference measurement in Liddle's syndrome. J Clin Invest 1998;102:10-4.