UESPI-CCS, Teresina, PI, Brazil.
J Pediatr Endocrinol Metab. 2022 Aug 10;35(11):1437-1442. doi: 10.1515/jpem-2021-0626. Print 2022 Nov 25.
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.
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.
This new molecular mechanism should be taken into consideration in differential diagnoses in children with hyperkalemia, hyponatremia, delayed growth, hypertension and hypertrophic cardiomegaly.
PHA1 是一种罕见的异质性疾病，其特征为由于盐皮质激素抵抗导致肾脏电解质转运发生变化。本研究的目的是报告一例儿童病例，该病例在 5 年随访中发现 ElaC 核糖核酸酶 Z2（ELAC2）基因突变，临床-实验室诊断为 1 型假性醛固酮增多症（PHA1），以及血小板增多症、边缘性醛固酮水平和血浆肾素活性等非典型临床表现。
该患者接受了皮质类固醇和盐补充治疗。他的心脏状况逐渐好转，并且在饮食中添加新的食物种类后，不再需要补充盐。
在儿童高钾血症、低钠血症、生长迟缓、高血压和心肌肥厚症的鉴别诊断中，应考虑这种新的分子机制。
