Children Growth Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran.
School of Medicine, Qazvin University of Medical Sciences, Qazvin, Iran.
J Pediatr Endocrinol Metab. 2024 Jul 5;37(8):745-749. doi: 10.1515/jpem-2023-0505. Print 2024 Aug 27.
Pseudohypoaldosteronism type 1 (PHA1) has two genetically distinct variants, including renal and systemic forms. Systemic PHA type I (PHA1B) has varying degrees of clinical presentation and results from mutations in genes encoding subunits of the epithelial sodium channel (ENaC) including the alpha, beta, and gamma subunits. To date, about 45 variants of PHA1B have been identified.
We report a boy with PHA1B, who presented with vomiting, lethargy, and poor feeding due to salt wasting six days after birth. The patient had electrolyte imbalances. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, NM_001038.6:c.1497G>C, with an autosomal recessive pattern, was identified by whole exosome sequencing. This variant was inherited as a homozygote from both heterozygous parents.
PHA should be considered in neonates with hyponatremia and hyperkalemia. This case report presents a patient with a novel mutation in SCNN1A that has not been previously reported. Long-term follow-up of identified patients to understand the underlying phenotype--genotype link is necessary.
假性醛固酮减少症 1 型（PHA1）有两种基因上明显不同的变异型，包括肾性和系统性。系统性 PHA1 型（PHA1B）具有不同程度的临床表现，是由于编码上皮钠通道（ENaC）亚单位的基因（包括 alpha、beta 和 gamma 亚单位）发生突变所致。迄今为止，已经发现了大约 45 种 PHA1B 变异型。
我们报告了一例 PHA1B 患儿，他在出生后 6 天因盐耗竭出现呕吐、嗜睡和喂养不良。该患者存在电解质失衡。通过全外显子组测序发现一种新型 SCNN1A（钠通道上皮亚单位 alpha）基因突变，NM_001038.6：c.1497G>C，呈常染色体隐性遗传模式。该变异型由来自两位杂合子父母的纯合子遗传。
对于低钠血症和高钾血症的新生儿应考虑 PHA。本病例报告介绍了一名患者 SCNN1A 中的新型突变，该突变以前尚未报道过。有必要对已确定的患者进行长期随访，以了解潜在的表型-基因型关联。
