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Article

Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Nov 2022

Mendes Luana Carvalho, de Oliveira Magalhães Rafael, Pereira Dos Santos Rodrigo Kelson, Araújo Rogério Santiago

Abstract excerpt

OBJECTIVES: PHA1 is a rare heterogeneous disorder featured by changes in renal electrolyte transport due to mineralocorticoid resistance. The aim of the current study is to report the case of a child with 5-year follow-up presenting mutation in the ElaC Ribonuclease Z 2 (ELAC2) gene and clinical-laboratory diagnosis of pseudohypoaldosteronism type 1 (PHA1), as well as atypical clinical manifestations such as...

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Identifiers

PMID: 35946480
DOI: 10.1515/jpem-2021-0626

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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