Casas-Alba Dídac, Vila Cots Jordi, Monfort Carretero Laura, Martorell Sampol Loreto, Zennaro Maria-Christina, Jeunemaitre Xavier, Camacho Díaz Juan Antonio
Pediatrics Department, Hospital Sant Joan de Déu (University of Barcelona), Barcelona.
Nephrology Department, Hospital Sant Joan de Déu (University of Barcelona), Barcelona.
J Pediatr Endocrinol Metab. 2017 May 1;30(5):597-601. doi: 10.1515/jpem-2016-0467.
Pseudohypoaldosteronism (PHA) comprises a diverse group of rare diseases characterized by sodium and potassium imbalances incorrectly attributed to a defect in aldosterone production. Two different forms of PHA have been described, type I (PHAI) and type II (PHAII). PHAI has been subclassified into renal and systemic. Given the rarity and heterogeneity of this group of disorders we report three patients who carry PHA and a brief revision of current literature focused on the comparative analysis of PHAI and PHAII. Cases 1 and 2 presented with hyponatremia, hyperkalemia, metabolic acidosis and elevated plasma aldosterone and plasma renin activity in the neonatal period. Sequence analysis of the NRC2 gene demonstrated a novel heterozygous c.403C>T mutation in case 1 and a complete deletion in case 2, confirming the diagnosis of renal PHAI. Case 3 was a 4-year-old with hypertension, hyperkalemia, metabolic acidosis, normal plasma aldosterone and decreased plasma renin activity. Sequence analysis of the CUL3 gene demonstrated a previously unreported heterozygous c.1377+2T>3 mutation, confirming the diagnosis of PHAII-E. We highlight the importance of the determination of plasma aldosterone and plasma renin activity in the context of persistent sodium and potassium imbalances in children.
假性醛固酮减少症（PHA）是一组罕见病，其特征为钠钾失衡，错误地归因于醛固酮分泌缺陷。PHA已被描述为两种不同形式，即I型（PHAI）和II型（PHAII）。PHAI又被细分为肾型和全身型。鉴于这类疾病的罕见性和异质性，我们报告了3例PHA患者，并对当前文献进行简要综述，重点是PHAI和PHAII的比较分析。病例1和病例2在新生儿期出现低钠血症、高钾血症、代谢性酸中毒以及血浆醛固酮和血浆肾素活性升高。对NRC2基因的序列分析显示，病例1存在一个新的杂合c.403C>T突变，病例2存在一个完全缺失，确诊为肾型PHAI。病例3是一名4岁儿童，患有高血压、高钾血症、代谢性酸中毒，血浆醛固酮正常，血浆肾素活性降低。对CUL3基因的序列分析显示一个先前未报道的杂合c.1377+2T>3突变，确诊为PHAII-E。我们强调在儿童持续存在钠钾失衡的情况下测定血浆醛固酮和血浆肾素活性的重要性。
