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http://dx.doi.org/10.3339/jkspn.2013.17.2.137

A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene  

Kim, Su-Yon (Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine)
Lee, Joo Hoon (Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine)
Cheong, Hae Il (Department of Pediatrics, Seoul National University Children's Hospital)
Park, Young Seo (Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine)
Publication Information
Childhood Kidney Diseases / v.17, no.2, 2013 , pp. 137-142 More about this Journal
Abstract
Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the ${\alpha}$ (SCNN1A), ${\beta}$ (SCNN1B), or ${\gamma}$ (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.
Keywords
Pseudohypoaldosteronism Type I; Hyperkalemia; Hyponatremia; Metabolic acidosis;
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Times Cited By KSCI : 1  (Citation Analysis)
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1 Han SB, Lim CH, Lee KY, Kim JS, Kim WH, Uhm M. A Case of Pseudohypoaldosteronism Type l Diagnosed after Infancy. J Korean Soc Pediatr Endocrinol 2007;12:82-6.
2 Geller DS. Mineralocorticoid resistance. Clin Endocrinol (Oxf) 2005;62:513-20.   DOI
3 Bonny O, Knoers N, Monnens L, Rossier BC. A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism. Pediatr Nephrol 2002;17:804-8.   DOI
4 Urbatsch A, Paller AS. Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism. Pediatr Dermatol 2002;19:317-9.   DOI
5 Marthinsen L, Kornfält 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.   DOI
6 Martin J, Calduch L, Monteagudo C, Alonso V, Garcia L, Jorda E. Clinico-pathological analysis of the cutaneous lesions of a patient with type I pseudohypoaldosteronism. Journal of the European Academy of Dermatology and Venereology 2005; 19:377-9.   DOI
7 Welzel M, Akin L, Büscher A, Güran T, Hauffa BP, Hogler W, et al. Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. European Journal of Endocrinology 2013;168:707-15.   DOI
8 Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child 1958;33:252-6.   DOI
9 Kwon YS, Shin HG, Ahn MS, Kim HB. A case of pseudohypoaldosteronism. Journal of the Korean Pediatric Society 1992; 35:984-8.
10 Lee SE, Jung YH, Han KH, Lee HK, Kang HG, Ha IS, et al. A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene. Korean J Pediatr 2011; 54:90-3.   DOI
11 Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, et al. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol (Oxf) 2005;62:547-53.   DOI
12 Riepe FG, Van Bemmelen MX, Cachat F, Plendl H, Gautschi I, Krone N, et al. Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the $\alpha$ subunit of the epithelial sodium channel. Clin Endocrinol (Oxf) 2009;70:252-8.   DOI
13 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. The Journal of steroid biochemistry and molecular biology 2008;111:268-74.   DOI
14 Dirlewanger M, Huser D, Zennaro M-C, Girardin E, Schild L, Schwitzgebel VM. A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1. American Journal of Physiology-Endocrinology And Metabolism 2011;301:E467-E73.   DOI
15 Adachi M, Asakura Y, Muroya K, Tajima T, Fujieda K, Kuribayashi E, et al. Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin Exp Nephrol 2010;14:228-32.   DOI
16 Silva N, Costa M, Silva A, Sa C, Martins S, Antunes A, et al. A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. Endocrinologiia y Nutricion 2012.
17 Riepe FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res Paediatr 2009;72:1-9.
18 Guran T, Degirmenci S, Bulut IK, Say A, Riepe FG, Güran O. Critical points in the management of pseudohypoaldosteronism type 1. J Clin Res Pediatr Endocrinol 2011;3:98.   DOI
19 Lee JE, Seo JW, Lee SJ. Two cases of pseudohypoaldosteronism type I. Journal of the Korean Pediatric Society 1994;37:122-8.
20 Hanukoglu A, Hanukoglu I. Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation. Clin Exp Nephrol 2010; 14:518-9.   DOI