Nur Nasifa, Lang Cameron, Hodax Juanita K, Quintos Jose Bernardo
Division of Pediatric Endocrinology, Rhode Island Hospital and The Warren Alpert Medical School of Brown University, Providence, RI, USA.
Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Case Rep Pediatr. 2017;2017:7939854. doi: 10.1155/2017/7939854. Epub 2017 Apr 18.
Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article we report a patient with systemic PHA type I presenting with severe dehydration due to salt wasting at 6 days of life. She was found to have a known mutation in the SCNN1A gene and subsequently required treatment with sodium supplementation. We also review the clinical presentation, differential diagnosis, and treatment of systemic PHA type I and summarize data from 27 cases with follow-up data.
I型系统性假性醛固酮增多症（PHA）是一种罕见的遗传性疾病，由上皮钠通道亚基突变引起，在婴儿期表现为严重的盐消耗、高钾血症和代谢性酸中毒。在本文中，我们报告了一名I型系统性PHA患者，该患者在出生6天时因盐消耗出现严重脱水。她被发现SCNN1A基因存在已知突变，随后需要补充钠进行治疗。我们还回顾了I型系统性PHA的临床表现、鉴别诊断和治疗，并总结了27例有随访数据的病例资料。
