A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1

American Journal of Physiology - Endocrinology and Metabolism

Volumn 301, Issue 3, 2011, Pages

  Dirlewanger, Mirjam ^a   Huser, Delphine ^b   Zennaro, Maria Christina ^c,d,e   Girardin, Eric ^a   Schild, Laurent ^b   Schwitzgebel, Valerie M ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c INSERM   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Aldosterone; Hyperkalemia; Hyponatremia; Mineralocorticoid resistance; Salt wasting

Indexed keywords

ALDOSTERONE; EPITHELIAL SODIUM CHANNEL; MINERALOCORTICOID; MINERALOCORTICOID RECEPTOR;

ALDOSTERONE BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; GENE MUTATION; GENETIC CODE; HUMAN; HYPERKALEMIA; INFANT; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSEUDOHYPOALDOSTERONISM; SALT WASTING; SODIUM LOAD;

EPITHELIAL SODIUM CHANNEL; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; MALE; MUTATION, MISSENSE; PSEUDOHYPOALDOSTERONISM;

EID: 80052052102     PISSN: 01931849     EISSN: 15221555     Source Type: Journal    
DOI: 10.1152/ajpendo.00066.2011     Document Type: Article

References (39)

1. Abriel H, Horisberger JD. Feedback inhibition of rat amiloride-sensitive epithelial sodium channels expressed in Xenopus laevis oocytes. J Physiol 516: 31-43, 1999.
2. Adachi M, Asakura Y, Muroya K, Tajima T, Fujieda K, Kuribayashi E, Uchida S. Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin Exp Nephrol 14: 228-232, 2010.
3. Al-Dahhan J, Haycock GB, Nichol B, Chantler C, Stimmler L. Sodium homeostasis in term and preterm neonates. III. Effect of salt supplementation. Arch Dis Child 59: 945-950, 1984.
4. Canessa CM, Fyfe GK, Zhang P. Structure and regulation of amiloride-sensitive sodium channels. Annu Rev Physiol 62: 573-594, 2000.
5. + absorption. Am J Physiol Gastrointest Liver Physiol 273: G571-G585, 1997.
6. Bastl CP, Hayslett JP. The cellular action of aldosterone in target epithelia. Kidney Int 42: 250-264, 1992.
7. Belot A, Ranchin B, Fichtner C, Pujo L, Rossier BC, Liutkus A, Morlat C, Nicolino M, Zennaro MC, Cochat P. Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol Dial Transplant 23: 1636-1641, 2008.
8. Bize V, Horisberger JD. Sodium self-inhibition of human epithelial sodium channel: selectivity and affinity of the extracellular sodium sensing site. Am J Physiol Renal Physiol 293: F1137-F1146, 2007.
9. Chraibi A, Vallet V, Firsov D, Hess SK, Horisberger JD. Protease modulation of the activity of the epithelial sodium channel expressed in Xenopus oocytes. J Gen Physiol 111: 127-138, 1998.
10. Delgado MM, Rohatgi R, Khan S, Holzman IR, Satlin LM. Sodium and potassium clearances by the maturing kidney: clinical-molecular correlates. Pediatr Nephrol 18: 759-767, 2003.
11. Donaldson SH, Boucher RC. Sodium channels and cystic fibrosis. Chest 132: 1631-1636, 2007.
12. Doucet A, Katz AI. Mineralcorticoid receptors along the nephron: [3H]aldosterone binding in rabbit tubules. Am J Physiol Renal Fluid Electrolyte Physiol 241: F605-F611, 1981.
13. Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakok M, Zajaczek S, Hanukoglu A. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol (Oxf) 62: 547-553, 2005.
14. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW 3rd; Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 153: S4-S14, 2008.
15. Garty H. Regulation of the epithelial Na+ channel by aldosterone: open questions and emerging answers. Kidney Int 57: 1270-1276, 2000.
16. Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 19: 279-281, 1998.
17. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab 73: 936-944, 1991.
18. Hanukoglu A, Edelheit O, Shriki Y, Gizewska M, Dascal N, Hanukoglu I. Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. J Steroid Biochem Mol Biol 111: 268-274, 2008.
19. Hanukoglu A, Hanukoglu I. Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation. Clin Exp Nephrol 14: 518-519, 2010.
20. Kellenberger S, Schild L. Epithelial sodium channel/degenerin family of ion channels: a variety of functions for a shared structure. Physiol Rev 82: 735-767, 2002.
21. Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, Bennett W, MacLaughlin E, Barker P, Nash M, Quittell L, Boucher R, Knowles MR. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 341: 156-162, 1999.
22. Kim GH, Masilamani S, Turner R, Mitchell C, Wade JB, Knepper MA. The thiazide-sensitive Na-Cl cotransporter is an aldosterone-induced protein. Proc Natl Acad Sci USA 95: 14552-14557, 1998.
23. Martin JM, Calduch L, Monteagudo C, Alonso V, Garcia L, Jorda E. Clinico-pathological analysis of the cutaneous lesions of a patient with type I pseudohypoaldosteronism. J Eur Acad Dermatol Venereol 19: 377-379, 2005.
24. Nanayakkara KK, Samarakoon AB, Perera BH, De Silva AW, Nanayakkara CD. Size of Sri Lankan newborns at birth. J Obstet Gynaecol 31: 311-314, 2011.
25. Polito C, La Manna A, Maiello R, Nappi B, Siciliano MC, Di Domenico MR, Di Toro R. Urinary sodium and potassium excretion in idiopathic hypercalciuria of children. Nephron 91: 7-12, 2002.
26. Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat 28: 33-40, 2007.
27. Riepe FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 72: 1-9, 2009.
28. Riepe FG, van Bemmelen MX, Cachat F, Plendl H, Gautschi I, Krone N, Holterhus PM, Theintz G, Schild L. Revealing a subclinical saltlosing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. Clin Endocrinol (Oxf) 70: 252-258, 2009.
29. Rossier BC, Stutts MJ. Activation of the epithelial sodium channel (ENaC) by serine proteases. Annu Rev Physiol 71: 361-379, 2009.
30. Satlin LM, Palmer LG. Apical K+ conductance in maturing rabbit principal cell. Am J Physiol Renal Physiol 272: F397-F404, 1997.
31. Satlin LM, Palmer LG. Apical Na+ conductance in maturing rabbit principal cell. Am J Physiol Renal Fluid Electrolyte Physiol 270: F391-F397, 1996.
32. Schaedel C, Marthinsen L, Kristoffersson AC, Kornfalt R, Nilsson KO, Orlenius B, Holmberg L. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J Pediatr 135: 739-745, 1999.
33. Schoeneman MJ, Spitzer A. The effect of intravascular volume expansion of proximal tubular reabsorption during development. Proc Soc Exp Biol Med 165: 319-322, 1980.
34. Speiser PW, Stoner E, New MI. Pseudohypoaldosteronism: a review and report of two new cases. Adv Exp Med Biol 196: 173-195, 1986.
35. Stephenson G, Hammet M, Hadaway G, Funder JW. Ontogeny of renal mineralocorticoid receptors and urinary electrolyte responses in the rat. Am J Physiol Renal Fluid Electrolyte Physiol 247: F665-F671, 1984.
36. Uchida N, Shiohara M, Miyagawa S, Yokota I, Mori T. A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. J Pediatr Endocrinol Metab 22: 91-95, 2009.
37. Verrey F, Pearce D, Pfeiffer R, Spindler B, Mastroberardino L, Summa V, Zecevic M. Pleiotropic action of aldosterone in epithelia mediated by transcription and post-transcription mechanisms. Kidney Int 57: 1277-1282, 2000.
38. Zennaro MC. Mineralocorticoid resistance. Steroids 61: 189-192, 1996.
39. Zennaro MC, Lombès M. Mineralocorticoid resistance. Trends Endocrinol Metab 15: 264-270, 2004.