A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution-Reference-Cited by-同舟云学术

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

Published:2022-08-02 Issue:11 Volume:35 Page:1448-1452
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Coelho Almeida André¹^ORCID,Bastos Gomes Mariana²,Martins Sofia A.³,Marques Olinda P.⁴,Gomes Maria Miguel³⁵,Antunes Ana M.³

Affiliation:

1. Department of Pediatrics and Neonatology , Centro Hospitalar de Trás-Os-Montes e Alto Douro , Vila Real , Portugal

2. Department of Pediatrics , Unidade Local de Saúde do Alto Minho , Viana do Castelo , Portugal

3. Pediatric Endocrinology and Diabetology Unit , Hospital de Braga , Braga , Portugal

4. Department of Endocrinology , Hospital de Braga , Braga , Portugal

5. School of Medicine , University of Minho , Braga , Portugal

Abstract

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.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2022-0201/pdf

Reference12 articles.

1. Gomes, MM, Martins, S, Marques, O, Silva, ND, Antunes, A. Severe systemic type 1 pseudohypoaldosteronism: 5 years of evolution. Endocrinol Nutr 2016;63:502–5. https://doi.org/10.1016/j.endonu.2016.08.002.

2. Casas-Alba, D, Cots, JV, Carretero, LM, Sampol, LM, Zennaro, M, Jeunemaitre, X, et al.. Pseudohypoaldosteronism types I and II: little more than a name in common. J Pediatr Endocrinol Metab 2017;30:597–601. https://doi.org/10.1515/jpem-2016-0467.

3. Gopal-Kothandapani, JS, Doshi, AB, Smith, K, Christian, M, Mushtaq, T, Banerjee, I, et al.. Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1. J Pediatr Endocrinol Metab 2019;32:959–67. https://doi.org/10.1515/jpem-2018-0538.

4. Cayir, A, Demirelli, Y, Yildiz, D, Kahveci, H, Yarali, O, Kurnaz, E, et al.. Systemic pseudohypoaldosteronism type 1 due to 3 novel mutations in SCNN1A and SCNN1B genes. Horm Res Paediatr 2019;91:175–85. https://doi.org/10.1159/000498860.

5. Serra, G, Antona, V, D’Alessandro, MM, Maggio, MC, Verde, V, Corsello, G. Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town. Ital J Pediatr 2021;47:138. https://doi.org/10.1186/s13052-021-01080-x.