Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

  • Lee, Se-Eun (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Jung, Yun-Hye (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Han, Kyoung-Hee (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Lee, Hyun-Kyung (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kang, Hee-Gyung (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Ha, Il-Soo (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Choi, Yong (Department of Pediatrics, Inje University Haeundae Paik Hospital) ;
  • Cheong, Hae-Il (Department of Pediatrics, Seoul National University Children's Hospital)
  • Received : 2010.09.06
  • Accepted : 2010.10.20
  • Published : 2011.02.15
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Abstract

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and secondary PHA1 associated with urinary tract diseases. Amongst these diseases, autosomal dominant PHA1 shows has manifestations restricted to renal tubules including a mild salt loss during infancy and that shows a gradual improvement with advancing age. Here, we report a neonatal case of PHA1 with a NR3C2 gene mutation (a heterozygous c.2146_2147insG in exon 5), in which the patient showed failure to thrive, hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels. This is the first case of pseudohypoaldosteronism type 1 confirmed by genetic analysis in Korea.

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References

  1. Sartorato P, Khaldi Y, Lapeyraque AL, Armanini D, Kuhnle U, Salomon R, et al. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. Mol Cell Endocrinol 2004;217:119-25. https://doi.org/10.1016/j.mce.2003.10.017
  2. Geller DS. Mineralocorticoid resistance. Clin Endocrinol (Oxf) 2005;62:513-20. https://doi.org/10.1111/j.1365-2265.2005.02229.x
  3. 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. https://doi.org/10.1210/jcem-73-5-936
  4. 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
  5. Kwon YS, Shin HG, Ahn MS, Kim HB. A case of pseudohypoaldosteronism. J Korean Pediatr Soc 1992;35:984-8.
  6. Lee JE, Seo JW, Lee SJ. Two cases of pseudohypoaldosteronism type I. J Korean Pediatr Soc 1994;37:122-8.
  7. Lee R, Kim SY, Choi SD, Chung SY, Kang JH, Lee BC. Two male siblings with pseudohypoaldosteronism type I. J Korean Pediatr Soc 1994;37:262-8.
  8. Kang IN, Lee JW, Bang JG, Lee DB. A case of pseudohypoaldosteronism. J Korean Pediatr Soc 1995;38:1160-3.
  9. Kim SJ, Lim PJ, Ban SH, Lee DH, Jin DK, Song SM, et al. Two cases with pseudohypoaldosteronism. J Korean Soc Pediatr Endocrinol 2000;5:215-9.
  10. Choi J, Hahn H, Park YS, You HW. A case of transient pseudohypoaldosteronism secondary to ureteropelvic Junction obstruction. J Korean Soc Pediatr Nephrol 2004;8:91-5.
  11. 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.
  12. Ahn SY, Shin SM, Kim KA, Lee YK, Ko SY. Pseudohypoaldosteronism in a premature neonate with severe polyhydramnios in utero. Korean J Pediatr 2009;52:376-9. https://doi.org/10.3345/kjp.2009.52.3.376
  13. Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child 1958;33:252-6. https://doi.org/10.1136/adc.33.169.252
  14. 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
  15. Kuhnle U, Nielsen MD, Tietze HU, Schroeter CH, Schlamp D, Bosson D, et al. Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. J Clin Endocrinol Metab 1990;70:638-41. https://doi.org/10.1210/jcem-70-3-638
  16. Riepe FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 2009;72:1-9.
  17. Kuhnle U. Pseudohypoaldosteronism: mutation found, problem solved? Mol Cell Endocrinol 1997;133:77-80. https://doi.org/10.1016/S0303-7207(97)00149-4
  18. Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, et al. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 2000;85:4690-4. https://doi.org/10.1210/jc.85.12.4690
  19. Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J Clin Endocrinol Metab 2001;86:2056-9. https://doi.org/10.1210/jc.86.5.2056
  20. Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG, Partsch CJ. Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J Clin Endocrinol Metab 2003;88:1683-6. https://doi.org/10.1210/jc.2002-021556
  21. 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
  22. Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, et al. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat 2007;28:33-40. https://doi.org/10.1002/humu.20371
  23. Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, et al. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 2006;91:4552-61. https://doi.org/10.1210/jc.2006-1161

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