Diagnosis and Management of Pseudohypoaldosteronism type 1 in Children
Abstract
Pseudohypoaldosteronism type 1 (PHA1) is a rare autosomal recessive disease characterized by impaired transepithelial sodium transport. Affected children develop life-threatening salt loss of neonatal onset, hyperkalemia, acidosis, elevated sweat, salivary and urinary sodium concentrations with the absence of glucocorticoid deficiency. Typically, these children have highly elevated renin and aldosterone levels due to end organ resistance to aldosterone. Therefore, they are insensitive to mineralocorticoid treatment, but respond to high doses of sodium supplementation and potassium-lowering therapies. Two clinical forms of PHA1 can be distinguished. The renal form of PHA1 (PHA1A; OMIM # 177735) is characterized by salt loss exclusively through the kidneys which is caused by autosomal dominant inactivating mutations in the human mineralocorticoid receptor (MR, NR3C2) gene. The systemic form of PHA1 (PHA1B; OMIM # 264350), results from biallelic inactivating mutations in the genes encoding the α (SCNN1A), β (SCNN1B) or ɤ (SCNN1G) subunit of the epithelial NaC channel (ENaC). In most of the patients with the renal form of PHA1, sodium supplementation can be weaned in early ages of life, probably due to the maturation of the renal sodium handling. However, the salt loss in PHA1B results not only from the kidneys but also from the colon, salivary glands, and sweat ducts. Children with PHA1B require life-long salt supplements and medical support. Some children with PHA1B develop a cystic fibrosis-like pulmonary phenotype with recurrent infections and cutaneous findings, which are not seen in PHA1A. Replacement of sodium and hydration fluids, treatment of hyperkalemia and acidosis, nutritional and pulmonary supportive therapies, close monitoring of growth and development by a multidisciplinary team are the mainstay of the treatment. Indomethacin, thiazide diuretics and carbenoxolone therapies may be tried with limited success. The TNF lectin like domain derived peptides that have been shown to activate the epithelial sodium channel (ENaC) in various cell- and animal-based studies are promising candidates for the treatment of PHA1B. This review summarizes clinical, biochemical and molecular features and current management of PHA1 in children.
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Furgeson SB, Linas S. Mechanisms of type I and type II pseudohypoaldosteronism. J Am Soc Nephrol. 2010;21(11):1842-1845.
Riepe FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res. 2009;72(1):1-9.
Kawashima Sonoyama Y, Tajima T, et al. A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1. Endocr J. 2017;64(1):83-90.
Amin N, Alvi NS, Barth JH, et al. Pseudohypoaldosteronism type 1: clinical features and management in infancy. Endocrinol Diabetes Metab Case Rep. 2013;2013:130010.
Belot A, Ranchin B, Fichtner C, et al. Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol Dial Transplant. 2008;23(5):1636-1641.
Welzel M, Akin L, Buscher A, et al. Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. Eur J Endocrinol. 2013;168(5):707-715.
Kala Ahluwalia G, Dasouki M, Lennon A. Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. Clin Case Rep. 2014;2(6):326-330.
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Dogan CS, Erdem D, Mesut P,et al. A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1. J Pediatr Endocrinol Metab. 2012;25(9-10):1035-1039.
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Zennaro MC, Fernandes-Rosa F. 30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations. J Endocrinol. 2017 Jul;234(1):T93-T106.
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Hanukoglu I, Hanukoglu A. Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene. 2016;579(2):95-132.
Nobel YR, Lodish MB, Raygada M, et al. Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. Endocrinol Diabetes Metab Case Rep. 2016;2016:150104.
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(2):248-250.
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Schweiger B, Moriarty MW, Cadnapaphornchai MA. Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1. Current opinion in pediatrics. Curr Opin Pediatr. 2009;21(2):269-271.
Turan I, Kotan LD, Tastan M, Gurbuz F, Topaloglu AK, Yuksel B. Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance. Clin Endocrinol (Oxf). 2018;88(6):799-805.
Wang J, Yu T, Yin L, et al. Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. PLoS One. 2013;8(6):e65676.
Furgeson SB, Linas S. Mechanisms of type I and type II pseudohypoaldosteronism. J Am Soc Nephrol. 2010;21(11):1842-1845.
Riepe FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res. 2009;72(1):1-9.
Kawashima Sonoyama Y, Tajima T, et al. A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1. Endocr J. 2017;64(1):83-90.
Amin N, Alvi NS, Barth JH, et al. Pseudohypoaldosteronism type 1: clinical features and management in infancy. Endocrinol Diabetes Metab Case Rep. 2013;2013:130010.
Belot A, Ranchin B, Fichtner C, et al. Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol Dial Transplant. 2008;23(5):1636-1641.
Welzel M, Akin L, Buscher A, et al. Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. Eur J Endocrinol. 2013;168(5):707-715.
Kala Ahluwalia G, Dasouki M, Lennon A. Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. Clin Case Rep. 2014;2(6):326-330.
Hummler E, Barker P, Gatzy J, et al. Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat Genet. 1996;12(3):325-328.
Javed A, Leonard JM, Cramer C, Kumar S, Kirmani S, Brands CK. Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. J Pediatr Endocrinol Metab. 2013;26(3-4):393-395.
Fernandes-Rosa FL, Hubert EL, Fagart J, et al. Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2011;96(3):E519-527.
Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child. 1958;33(169):252-256.
Schaedel C, Marthinsen L, Kristoffersson AC, 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(6):739-745.
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(7):3344-3350.
Thomas CP1, Zhou J, Liu KZ, Mick VE, MacLaughlin E, Knowles M. Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit. Am J Respir Cell Mol Biol. 2002;27(3):314-319.
Edelheit O, Hanukoglu I, Gizewska M, et al. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol (Oxf). 2005;62(5):547-553.
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. 2008;111(3-5):268-274.
Adachi M, Asakura Y, Muroya K,et al. Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin Exp Nephrol. 2010;14(3):228-332.
O'Connell SM, Johnson SR, Lewis BD, et al. Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy. J Pediatr Endocrinol Metab. 2011;24(7-8):555-559.
Hubert EL, Teissier R, Fernandes-Rosa FL, et al. Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1. J Am Soc Nephrol. 2011;22(11):1997-2003.
Dirlewanger M, Huser D, Zennaro MC, Girardin E, Schild L, Schwitzgebel VM. A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1. Am J Physiol Endocrinol Metab. 2011;301(3):E467-473.
Nasir A, Najab IA. Unique eyelid manifestations in type 1 pseudohypoaldosteronism. Arch Dis Child Fetal Neonatal Ed. 2012;97(6):F462.
Dogan CS, Erdem D, Mesut P,et al. A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1. J Pediatr Endocrinol Metab. 2012;25(9-10):1035-1039.
Onal H, Adal E, Ersen A, Onal Z, Keskindemirci G. Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: case report. Platelets. 2012;23(8):645-647.
Saravanapandian N, Paul S, Matthai J. Pseudohypoaldosteronism type 1: a rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates. J Clin Neonatol. 2012;1(4):224-226.
Mostofizadeh N, Hashemipour M, Hovsepian S. A Case of pseudohypoaldosteronism type 1 with positive familial history. J Res Med Sci 2012; 17(Spec 2): S318-S321.
Mora-Lopez F1, Bernal-Quiros M, Lechuga-Sancho AM, Lechuga-Campoy JL, Hernandez-Trujillo N, Nieto A. Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis. Eur J Pediatr. 2012;171(6):997-1000.
Ekinci Z, Aytac MB, Cheong HI. A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1. J Pediatr Endocrinol Metab. 2013;26(11-12):1197-200.
Hatta Y, Nakamura A, Hara S, et al. Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. Endocr J. 2013;60(3):299-304.
Sharma R, Pandey M, Kanwal SK, Zennaro MC. Pseudohypoaldosteronism type 1: management issues. Indian Pediatr. 2013;50(3):331-333.
Bhullar SPK, Seifeldin R, Hemady N. Sporadic pseudohypoaldosteronism: A challenging diagnosis. International Journal of Case Reports and Images 2013;4(1):15–18.
Silva N, Costa M, Silva A, et al. A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. Endocrinol Nutr. 2013;60(1):33-36.
Rajpoot SK, Maggi C, Bhangoo A. Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia. Endocrinol Diabetes Metab Case Rep. 2014;2014:130077.
Korkut S, Gokalp E, Ozdemir A, et al. Dermal and Ophthalmic Findings in Pseudohypoaldosteronism. J Clin Res Pediatr Endocrinol. 2015;7(2):155-158.
Khalil ST, Cabacungan E. Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk. Global pediatric health. 2015;2:2333794X15569301. Glob Pediatr Health. 2015;2:2333794X15569301.
Morikawa S, Komatsu N, Sakata S, Nakamura-Utsunomiya A, Okada S, Tajima T. Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2. Clin Pediatr Endocrinol. 2015;24(3):135-138.
Attia NA, Marzouk YI. Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. Case Rep Endocrinol. 2016;2016:6384697.
Nishizaki Y, Hiura M, Sato H, Ogawa Y, Saitoh A, Nagasaki K. A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1. Clin Pediatr Endocrinol. 2016;25(4):135-138.
Tsunogai T, Miyata I, Kotake S, et al. A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1. Clin Pediatr Endocrinol. 2016;25(3):111-114.
Tunç S DK, Terek D, Ceylan G, et al. Effective Treatment with Sodiumpolystrene Sulfonate in Two Cases with Pseudohypoaldosteronism Type 1B. Turkiye Klinikleri J Case Rep 2016;(24):22-25.
Nur N, Lang C, Hodax JK, Quintos JB. Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. Case Rep Pediatr. 2017;2017:7939854.
Casas-Alba D, Vila Cots J, Monfort Carretero L, et al. Pseudohypoaldosteronism types I and II: little more than a name in common. J Pediatr Endocrinol Metab. 2017;30(5):597-601.
Manipriya R, Umamaheswari B, Prakash A, Binu N. Rare Cause of Hyperkalemia in the Newborn Period: Report of Two Cases of Pseudohypoaldosteronism Type 1. Indian J Nephrol. 2018;28(1):69-72.
Zennaro MC, Fernandes-Rosa F. 30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations. J Endocrinol. 2017 Jul;234(1):T93-T106.
Teisser R HE, Fernandes Rosa FL, Fay M, Rafestin-Oblin ME, Jeunemaitre X,. Severe salt-losing neonatal syndrome: the first case of autosomal recessive pseudohypoaldostero- nism type 1 caused by compound heterozygous mutations in the mineralocorticoid receptor gene. 50th annual meeting of the European Society for Pediatrics Endocrinology, ESPE. 2011:Posters presentations: P1-d-339.
Hanukoglu I, Hanukoglu A. Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene. 2016;579(2):95-132.
Nobel YR, Lodish MB, Raygada M, et al. Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene. Endocrinol Diabetes Metab Case Rep. 2016;2016:150104.
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(2):248-250.
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DOI: http://dx.doi.org/10.18103/imr.v4i12.776
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