A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution

André Coelho Almeida; Mariana Bastos Gomes; Sofia A. Martins; Olinda P. Marques; Maria Miguel Gomes; Ana M. Antunes

doi:10.1515/jpem-2022-0201

Article

A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution

André Coelho Almeida , Mariana Bastos Gomes , Sofia A. Martins , Olinda P. Marques , Maria Miguel Gomes and Ana M. Antunes

Published/Copyright: August 2, 2022

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 35 Issue 11

Abstract

Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations. We report the follow-up for the last 10 years of a patient, with previously unrecognized genetic findings identified. In addition, we reviewed the literature and compared it with other pediatric cases.

Keywords: 10 years; pseudohypoaldosteronism; SCNN1A

Corresponding author: Andre Coelho Almeida, MD, Department of Pediatrics and Neonatology, Centro Hospitalar de Trás-Os-Montes e Alto Douro, Rua dos Lagoeiros, Vila Real, 5000, Portugal, Phone: +351967184191, E-mail: andrec_almeida@hotmail.com

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Not applicable.

References

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Received: 2022-03-25

Accepted: 2022-06-27

Published Online: 2022-08-02

Published in Print: 2022-11-25

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Articles in the same Issue

https://doi.org/10.1515/jpem-2022-0201

Keywords for this article

10 years; pseudohypoaldosteronism; SCNN1A