Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Pseudohypoaldosteronism Type 1 with a Novel Mutation in the NR3C2 Gene: A Case Report

  • Kim, Young Min (Department of Pediatrics, Chonnam National University Medical School & Children's Hospital) ;
  • Choi, In Su (Department of Pediatrics, Chonnam National University Medical School & Children's Hospital) ;
  • Cheong, Hae Il (Biomedical Research Institute, Seoul National University Hospital) ;
  • Kim, Chan Jong (Department of Pediatrics, Chonnam National University Medical School & Children's Hospital) ;
  • Yang, Eun Mi (Department of Pediatrics, Chonnam National University Medical School & Children's Hospital)
  • Received : 2020.03.24
  • Accepted : 2020.04.09
  • Published : 2020.04.30
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Abstract

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type with an autosomal recessive inheritance (caused by mutations of the epithelial sodium channel) and renal type with an autosomal dominant inheritance (caused by mutations in the mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely; however, PHA1 commonly involves hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of renin and aldosterone. The earliest signs of both type of PAH1 also comprise insufficiency weight gain due to chronic dehydration and failure to thrive during infancy. Here, we report a case of renal PAH1 in a 28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene (c.1341_1345dupAAACC in exon 2), showing only failure to thrive without the characteristic of dehydration.

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References

  1. Bizzarri C, Pedicelli S, Cappa M, Cianfarani S. Water Balance and 'Salt Wasting' in the First Year of Life: The Role of Aldosterone-Signaling Defects. Horm Res Paediatr 2016;86:143-53. https://doi.org/10.1159/000449057
  2. White PC. Altered End-Organ Sensitivity to Corticosteroids. In: Kliegman RM, editors. Nelson textbook of pediatrics. 20th ed. Philadelphia: Elsevier Saunders; 2016:2711-4.
  3. Cheong HI. Pseudohypoaldosteronism Type 1. J Genet Med 2013;10:81-87. https://doi.org/10.5734/JGM.2013.10.2.81
  4. Geller DS. Mineralocorticoid resistance. Clin Endocrinol (Oxf) 2005;62:513-20. https://doi.org/10.1111/j.1365-2265.2005.02229.x
  5. Riepe FG. Pseudohypoaldosteronism. Endocr Dev 2013;24:86-95. https://doi.org/10.1159/000342508
  6. Amin N, Alvi NS, Barth JH, Field HP, Finlay E, Tyerman K, et al. Pseudohypoaldosteronism type 1: clinical features and management in infancy. Endocrinol Diabetes Metab Case Rep 2013; 2013:130010.
  7. Orth DN. Adrenocorticotroic hormone. In: Jaffe Bernard, editors. Methods of hormone radioimmunoassay. 2nd ed. New York: Academic Press, 1978:245-79.
  8. Voilley N, Bassilana F, Mignon C, Merscher S, Mattei MG, Carle GF, et al. Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. Genomics 1995;28:560-5. https://doi.org/10.1006/geno.1995.1188
  9. Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996;12:248-53. https://doi.org/10.1038/ng0396-248
  10. Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998;19:279-81. https://doi.org/10.1038/966
  11. Kim SY, Lee JH, Cheong HI, Park YS. A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene. J Korean Soc Pediatr Nephrol 2013;17:137-42. https://doi.org/10.3339/jkspn.2013.17.2.137
  12. Korkut S, Akin L, Hatipoglu N, Ozdemir A, Korkmaz L, Kendirci M, et al. Clinical Course and Follow-Up of Type 1 Pseudohypoaldosteronism. Erciyes Med J 2018;40:113-9. https://doi.org/10.5152/etd.2018.0033
  13. 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. https://doi.org/10.3345/kjp.2011.54.2.90
  14. Kang IN, Lee JW, Bang JG, Lee DB. A case of pseudohypoaldosteronism. J Korean Pediatr Soc 1995;38:1160-3.
  15. Geller DS, Zhang J, Zennaro MC, Vallo-Boado A, Rodriguez-Soriano J, Furu L, et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol 2006;17:1429-36. https://doi.org/10.1681/ASN.2005111188

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