Güran Tülay, Değirmenci Serpil, Bulut İpek K, Say Aysun, Riepe Felix G, Güran Ömer
Zeynep Kamil Maternity and Childrens' Diseases Training and Research Hospital, Division of Pediatric Endocrinology and Diabetes, Istanbul, Turkey.
J Clin Res Pediatr Endocrinol. 2011;3(2):98-100. doi: 10.4274/jcrpe.v3i2.20. Epub 2011 Jun 8.
Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions.
1型假性醛固酮减少症（PHA-1，MIM #264350）是由跨上皮钠转运缺陷引起的。由于终末器官对醛固酮抵抗，受影响的患者会出现危及生命的新生儿期盐丢失、高钾血症、酸中毒以及醛固酮水平升高。在本报告中，我们介绍了一名被诊断为PHA-1的患者，其临床和实验室检查结果与诊断相符，并且经基因检测证实为常染色体隐性遗传的PHA-1。该患者接受了高剂量的钠补充和降钾治疗；然而，在该病例的管理中遇到了一些困难。本报告的目的是指出临床实践中此类患者治疗中可能存在的陷阱并推荐解决方案。
