Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism

New England Journal of Medicine

Volumn 341, Issue 3, 1999, Pages 156-162

  Kerem, Eitan ^a   Bistritzer, Tzvy ^b   Hanukoglu, Aaron ^c   Hofmann, Thomas ^d   Zhou, Zhaoqing ^e   Bennett, William ^e   MacLaughlin, Eithne ^f   Barker, Pierre ^e   Nash, Martin ^g   Quittell, Lynne ^g   Boucher, Richard ^e   Knowles, Michael R ^e   Homolya, Vera ^e   Keenan, Bruce ^h  

^a HEBREW UNIVERSITY   (Israel)

^b ASSAF HAROFEH MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d UNIVERSITY HOSPITAL GIESSEN   (Germany)

^e UNIVERSITY OF NORTH CAROLINA   (United States)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^g New York State Psychiat Inst and New York Presbyterian Hospital Columbia University Medical Center   (United States)

^h UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM; SODIUM CHANNEL;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; LUNG FUNCTION; MALE; MUCOCILIARY CLEARANCE; MUCOCILIARY TRANSPORT; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; PSEUDOMONAS AERUGINOSA; RESPIRATORY EPITHELIUM; SODIUM ABSORPTION; SODIUM TRANSPORT; STAPHYLOCOCCUS AUREUS;

EID: 0033565228     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199907153410304     Document Type: Article

References (33)

1. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab 1991;73:936-44.
2. Chang SS, Grunder S, Hanukoglu A, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type I. Nat Genet 1996;12:248-53.
3. Strautnieks SS, Thompson RJ, Gardiner RM, Chung E. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 1996;13: 248-50.
4. Geller DS, Rodriquez-Soriano J, Vallo Boado A, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998;19:279-81.
5. Hanukoglu A, Bistritzer T, Rakover Y, Mandelberg A. Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. J Pediatr 1994; 125:752-5.
6. Marthinsen L, Kornfalt R, Aili M, Andersson D, Westgren U, Schaedel C. Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type I pseudohypoaldosteronism. Acta Paediatr 1998;87:472-4.
7. Kilburn KH. A hypothesis for pulmonary clearance and its implications. Am Rev Respir Dis 1968;98:449-63.
8. Boucher RC. Human airway ion transport. Am J Respir Crit Care Med 1994;150:271-81.
9. Wanner A, Salathe M, O'Riordan TG. Mucociliary clearance in the airways. Am J Respir Crit Care Med 1996;154:1868-902.
10. Quinton PM. Viscosity versus composition in airway pathology. Am J Respir Crit Care Med 1994;149:6-7.
11. Smith JJ, Travis SM, Greenberg EP, Welsh MJ. Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid. Cell 1996;85:229-36. [Erratum, Cell 1996;87:355a.]
12. Wine JJ. The genesis of cystic fibrosis lung disease. J Clin Invest 1999; 103:309-12.
13. Working Group of the European Society of Pediatric Gastroenterology and Nutrition. A standardized protocol for the methodology of esophageal pH monitoring and interpretation of the data for the diagnosis of gastroesophageal reflux. J Pediatr Gastroenterol Nutr 1992;14:467-71.
14. Oberfield SE, Levine LS, Carey RM, Bejar R, New MI. Pseudohypoaldosteronism: multiple target organ unresponsiveness to mineralocorticoid hormones. J Clin Endocrinol Metab 1979;48:228-34.
15. Skin tests used in type I allergy testing position paper: Sub-Committee on Skin Tests of the European Academy of Allergology and Clinical Immunology. Allergy 1989;44:Suppl 10:1-59.
16. Hargreave FE, Ryan G, Thomson NC, et al. Bronchial responsiveness to histamine or methacholine in asthma: measurement and clinical significance. J Allergy Clin Immunol 1981;68:347-55.
17. Avital A, Bar-Yishay E, Springer C, Godfrey S. Bronchial provocation tests in young children using tracheal auscultation. J Pediatr 1988;112:591-4.
18. Lodrup-Carlsen KC, Carlsen KH. Lung function in awake healthy infants: the first five days of life. Eur Respir J 1993;6:1496-500.
19. 2 washout in small animals and newborn infants. Pediatr Res 1985;19:1165-9.
20. Highsmith WE, Burch LH, Zhou A, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994;331:974-80.
21. Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1995;6:445-55.
22. Knowles M, Gatzy J, Boucher R. Relative ion permeability of normal and cystic fibrosis nasal epithelium. J Clin Invest 1983;71:1410-7.
23. Knowles MR, Robinson JM, Wood RE, et al. Ion composition of airway surface liquid of patients with cystic fibrosis as compared with normal and disease-control subjects. J Clin Invest 1997;100:2588-95. [Erratum, J Clin Invest 1998;101:285.]
24. Gilligan PH. Microbiology of airway disease in patients with cystic fibrosis. Clin Microbiol Rev 1991;4:35-51.
25. Olivier KN, Bennett WD, Hohneker KW, et al. Acute safety and effects on mucociliary clearance of aerosolized uridine 5′-triphosphate +/-amiloride in normal human adults. Am J Respir Crit Care Med 1996;154: 217-23.
26. Zar JH. Biostatistical analysis. 3rd ed. Upper Saddle River, N.J.: Prentice-Hall, 1996.
27. Boucher RC. Human airway ion transport. Am J Respir Crit Care Med 1994;150:581-93.
28. Li X-J, Xu R-H, 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.
29. Clark JC, Weaver TE, Iwamoto HS, et al. Decreased lung compliance and air trapping in heterozygous SP-B-deficient mice. Am J Respir Cell Mol Biol 1997;16:46-52.
30. Yager D, Butler JP, Bastacky J, Israel E, Smith G, Drazen JM. Amplification of airway constriction due to liquid filling of airway interstices. J Appl Physiol 1989;66:2873-84.
31. Mitchell I, Corey M, Woenne R, Krastins IRB, Levinson H. Bronchial hyperreactivity in cystic fibrosis and asthma. J Pediatr 1978;93:744-8.
32. Sanchez I, Powell RE, Pasterkamp H. Wheezing and airflow obstruction during methacholine challenge in children with cystic fibrosis and in normal children. Am Rev Respir Dis 1993;147:705-9.
33. Matsui H, Grubb BR, Tarran R, et al. Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease. Cell 1998;95:1005-15.