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

Abstract

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 thrombocytosis, borderline aldosterone levels, and plasma renin activity. Case presentation The patient was treated with corticosteroids and salt replenishment. His cardiological condition presented gradual regression and the introduction of new food items in his diet dismissed the need of salt replenishment. Conclusions This new molecular mechanism should be taken into consideration in differential diagnoses in children with hyperkalemia, hyponatremia, delayed growth, hypertension and hypertrophic cardiomegaly.

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

“…In mitochondria, both RNAseP and RNAseZ have been localized within the so-called RNA granules, which are sites of active RNA maturation [ 12 ]. Mutations in the genes encoding RNAseP and RNAseZ subunits have been linked to impaired precursor processing and tRNA maturation, OXPHOS deficiency and mitochondrial disease (MD) [ 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ].…”

“…To date, twenty autosomal recessive variants in the ELAC2 gene have been linked to MD, most commonly presenting with cardiomyopathy, developmental delay and lactic acidosis. Severe cardiomyopathy was usually associated with a poor prognosis in pediatric patients, while cases with milder forms had a prolonged survival, but variably severe neurological presentation [ 17 , 18 , 19 , 20 , 21 , 22 , 23 ]. Isolated complex I or combined complex I and IV deficiency were observed in patient biopsies and, sometimes, in fibroblast cultures consistent with the important role of ELAC2 in mtDNA expression.…”