Joshi Kamal, Verma Prashant Kumar, Barman Manidipa
Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, India.
EJIFCC. 2022 Oct 28;33(3):268-273. eCollection 2022 Oct.
Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is due to mutations in other genes. Type I PHA is further divided into systemic and renal forms based on the gene and organ involved. Systemic PHAI is a rare, multisystem disease presenting as severe salt wasting in neonates. In this article, we report a case of systemic pseudohypoaldosteronism type 1 in a 2 days old neonate with a novel mutation involving gene. Our patient appears to be the first reported case of systemic PHAI due to mutation from India.
假性醛固酮减少症（PHA）是一种通道病，可导致新生儿出现危及生命的高钾血症、低钠血症和代谢性酸中毒。I型PHA（PHAI）的特征是与ENaC通道亚基相关的一个或多个基因发生突变，而II型（A至E）PHA则是由其他基因突变引起的。I型PHA根据所涉及的基因和器官进一步分为全身性和肾性两种形式。全身性PHAI是一种罕见的多系统疾病，表现为新生儿严重的盐消耗。在本文中，我们报告了一例2日龄新生儿全身性1型假性醛固酮减少症病例，该病例存在一个涉及某基因的新突变。我们的患者似乎是印度首例因该突变导致的全身性PHAI报告病例。
