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Case Reports in Endocrinology
Volume 2016, Article ID 6384697, 3 pages
http://dx.doi.org/10.1155/2016/6384697
Case Report

Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia

1Department of Pediatric Endocrinology and Metabolism, King Abdulaziz Medical City, Jeddah 21423, Saudi Arabia
2King Saud bin Abdulaziz University for Health Sciences, Jeddah 21423, Saudi Arabia

Received 10 November 2015; Accepted 30 December 2015

Academic Editor: Lucy Mastrandrea

Copyright © 2016 Najya A. Attia and Yousef I. Marzouk. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. J. Dillon, J. V. Leonard, J. M. Buckler et al., “Pseudohypoaldosteronism,” Archives of Disease in Childhood, vol. 55, no. 6, pp. 427–434, 1980. View at Publisher · View at Google Scholar · View at Scopus
  2. A. Hanukoglu, “Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects,” The Journal of Clinical Endocrinology & Metabolism, vol. 73, no. 5, pp. 936–944, 1991. View at Publisher · View at Google Scholar · View at Scopus
  3. D. S. Geller, J. Zhang, M.-C. Zennaro et al., “Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults,” Journal of the American Society of Nephrology, vol. 17, no. 5, pp. 1429–1436, 2006. View at Publisher · View at Google Scholar · View at Scopus
  4. S. S. Strautnieks, R. J. Thompson, R. M. Gardiner, and E. Chung, “A novel splice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families,” Nature Genetics, vol. 13, no. 2, pp. 248–250, 1996. View at Publisher · View at Google Scholar
  5. S. S. Chang, S. Grunder, A. Hanukoglu et al., “Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1,” Nature Genetics, vol. 12, no. 3, pp. 248–253, 1996. View at Publisher · View at Google Scholar · View at Scopus
  6. E. Aberer, W. Gebhart, M. Mainitz, A. Pollak, G. Reichel, and S. Scheibenreiter, “Sweat glands in pseudohypoaldosteronism,” Der Hautarzt, vol. 38, no. 8, pp. 484–487, 1987. View at Google Scholar
  7. A. Hanukoglu, T. Bistritzer, Y. Rakover, and A. Mandelberg, “Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis,” Journal of Pediatrics, vol. 125, no. 5, part 1, pp. 752–755, 1994. View at Google Scholar
  8. M. Robert-Nicoud, M. Flahaut, J.-M. Elalouf et al., “Transcriptome of a mouse kidney cortical collecting duct cell line: effects of aldosterone and vasopressin,” Proceedings of the National Academy of Sciences of the United States of America, vol. 98, no. 5, pp. 2712–2716, 2001. View at Publisher · View at Google Scholar · View at Scopus
  9. O. Bonny and B. C. Rossier, “Disturbances of Na/K balance: pseudohypoaldosteronism revisited,” Journal of the American Society of Nephrology, vol. 13, no. 9, pp. 2399–2414, 2002. View at Publisher · View at Google Scholar · View at Scopus
  10. F. G. Riepe, “Clinical and molecular features of type 1 pseudohypoaldosteronism,” Hormone Research, vol. 72, no. 1, pp. 1–9, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. T. J. Schaefer and R. W. Wolford, “Disorders of potassium,” Emergency Medicine Clinics of North America, vol. 23, no. 3, pp. 723–747, 2005. View at Publisher · View at Google Scholar · View at Scopus
  12. G. P. Wong and D. Levine, “Congenital pseudohypoaldosteronism presenting in utero with acute polyhydramnios,” Journal of Maternal-Fetal Medicine, vol. 7, no. 2, pp. 76–78, 1998. View at Publisher · View at Google Scholar · View at Scopus
  13. I. Akkurt, U. Kuhnle, and C. Ringenberg, “Pseudohypo-aldosteronism and cholelithiasis: coincidence or pathogenetic correlation?” European Journal of Pediatrics, vol. 156, no. 5, pp. 363–366, 1997. View at Publisher · View at Google Scholar · View at Scopus