Pseudohypoaldosteronism types I and II: little more than a name in common

Dídac Casas-Alba; Jordi Vila Cots; Laura Monfort Carretero; Loreto Martorell Sampol; Maria-Christina Zennaro; Xavier Jeunemaitre; Juan Antonio Camacho Díaz

doi:10.1515/jpem-2016-0467

Article

Pseudohypoaldosteronism types I and II: little more than a name in common

Dídac Casas-Alba , Jordi Vila Cots , Laura Monfort Carretero , Loreto Martorell Sampol , Maria-Christina Zennaro , Xavier Jeunemaitre and Juan Antonio Camacho Díaz

Published/Copyright: April 7, 2017

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 30 Issue 5

Abstract

Pseudohypoaldosteronism (PHA) comprises a diverse group of rare diseases characterized by sodium and potassium imbalances incorrectly attributed to a defect in aldosterone production. Two different forms of PHA have been described, type I (PHAI) and type II (PHAII). PHAI has been subclassified into renal and systemic. Given the rarity and heterogeneity of this group of disorders we report three patients who carry PHA and a brief revision of current literature focused on the comparative analysis of PHAI and PHAII. Cases 1 and 2 presented with hyponatremia, hyperkalemia, metabolic acidosis and elevated plasma aldosterone and plasma renin activity in the neonatal period. Sequence analysis of the NRC2 gene demonstrated a novel heterozygous c.403C>T mutation in case 1 and a complete deletion in case 2, confirming the diagnosis of renal PHAI. Case 3 was a 4-year-old with hypertension, hyperkalemia, metabolic acidosis, normal plasma aldosterone and decreased plasma renin activity. Sequence analysis of the CUL3 gene demonstrated a previously unreported heterozygous c.1377+2T>3 mutation, confirming the diagnosis of PHAII-E. We highlight the importance of the determination of plasma aldosterone and plasma renin activity in the context of persistent sodium and potassium imbalances in children.

Keywords: aldosterone; CUL3 gene; NR3C2 gene; pseudohypoaldosteronism; renin activity

Corresponding author: Dídac Casas-Alba, MD, Pediatrics Department, Hospital Sant Joan de Déu (University of Barcelona), Passeig de Sant Joan de Déu, no. 2, 08950, Esplugues, Barcelona, Spain, Phone: +34 93 253 21 00

Author contributions: Dídac Casas-Alba: drafted the initial manuscript and approved the final manuscript as submitted. Jordi Vila Cots: coordinated and supervised the study, critically reviewed the manuscript and approved the final manuscript as submitted. Laura Monfort Carretero: critically reviewed the manuscript and approved the final manuscript as submitted. Loreto Martorell Sampol: critically reviewed the manuscript and approved the final manuscript as submitted. Maria-Christina Zennaro: critically reviewed the manuscript and approved the final manuscript as submitted. Xavier Jeunemaitre: critically reviewed the manuscript and approved the final manuscript as submitted. Juan Antonio Camacho Díaz: coordinated and supervised data collection, critically reviewed the manuscript and approved the final manuscript as submitted. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2016-12-16

Accepted: 2017-3-6

Published Online: 2017-4-7

Published in Print: 2017-5-1

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https://doi.org/10.1515/jpem-2016-0467

Keywords for this article

aldosterone; CUL3 gene; NR3C2 gene; pseudohypoaldosteronism; renin activity