Pseudohupoaldosteronsm and apparent mineralocorticoid excess Two faces, two pediatric patients

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María Florencia Kuspiel
Guillermo Alonso

Abstract

Endocrinological syndromes with underactive or overactive hormonal levels with paradoxical dosages have been well characterized over the years of the twentieth century, from the development of genetic and molecular techniques. We present two patients with pseudohypoaldosteronism and apparent mineralocorticoid excess as mirror syndromes, with the aim to alert the clinician regarding their consideration as a diagnostic entity in children with fluid and electrolyte disturbances

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Published: 2016-03-30
Keywords:
apparent mineralocorticoid excess, aldosterone, type 2 11 β hidroxiesteroide deshidrogenase, Pseudohypoaldosteronism

Article Details

Section

Clinical case

How to Cite

1.
Kuspiel MF, Alonso G. Pseudohupoaldosteronsm and apparent mineralocorticoid excess: Two faces, two pediatric patients. Rev Hosp Ital B.Aires [Internet]. 2016 Mar. 30 [cited 2026 Jul. 31];36(1):11-4. Available from: https://ojs.hospitalitaliano.org.ar/index.php/revistahi/article/view/688

References

Balsamo A, Cicognani A, Gennari M, et al. Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur J Endocrinol. 2007;156(2):249-56.

Belot A, Ranchin B, Fichtner C, et al. Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol Dial Transplant. 2008;23(5):1636-41.

Carvajal CA, Gonzalez AA, Romero DG, et al. Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. J Clin Endocrinol Metab. 2003;88(6):2501-7.

Knops NB, Monnens LA, Lenders JW, et al. Apparent mineralocorticoid excess: time of manifestation and complications despite treatment. Pediatrics. 2011;127(6):e1610-4.

Mune T, Rogerson FM, Nikkilä H, et al. Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat Genet. 1995;10(4):394-9.

Nandagopal R, Vaidyanathan P, Kaplowitz P. Transient Pseudohypoaldosteronism due to Urinary Tract Infection in Infancy: A Report of 4 Cases. Int J Pediatr Endocrinol. 2009;2009:195728. doi: 10.1155/2009/195728.

Riepe FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res. 2009;72(1):1-9.

White PC, Mune T, Agarwal AK. 11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev. 1997;18(1):135-56.

Zennaro MC, Borensztein P, Jeunemaitre X, et al. Molecular characterization of the mineralocorticoid receptor in pseudohypoaldosteronism. Steroids. 1995;60(1):164-7.

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