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[盐耗竭综合征婴儿的假性醛固酮减少症。两例报告]

[Pseudohypoaldosteronism in infants with salt wasting syndrome. Two case reports].

作者信息

Szalecki Mieczysław, Wójcik Eliza, Domagała Zdzisław, Małunowicz Ewa

机构信息

Oddział Endokrynologiczno-Diabetologiczny Wojewódzkiego Specjalistycznego Szpitala Dzieciecego w Kielcach.

出版信息

Pediatr Endocrinol Diabetes Metab. 2007;13(1):33-6.

Abstract

The paper discusses two cases of male infants, who developed a markedly elevated salt wasting syndrome in early infancy, resistant to treatment with mineralocorticoids. Steroid urinary profiles excluded congenital adrenal hyperplasia. However, both patients presented with extremely high excretion of aldosterone metabolite THAldo without effects of aldosterone action, what resulted in pseudohypoaldosteronism (PHA) diagnosis. The patients were treated with sodium supplementation, which normalized their clinical state and serum electrolytes. In the first patient the sporadic form of renal PHA1 is suspected. In the second patient congenital urinary tract anomalies and infection resulted in transient PHA1. Pseudohypoaldosteronism should be considered in the differential diagnosis of a salt wasting syndrome in infants, especially when it is accompanied by infections or congenital defects of the urinary tract.

摘要

本文讨论了两例男婴,他们在婴儿早期出现了明显的盐耗竭综合征,对盐皮质激素治疗耐药。类固醇尿谱排除了先天性肾上腺增生。然而,两名患者均出现醛固酮代谢产物THAldo排泄极高,但无醛固酮作用的影响,这导致了假性醛固酮减少症(PHA)的诊断。患者接受了钠补充治疗,临床状态和血清电解质恢复正常。在第一例患者中,怀疑为散发性肾性PHA1。在第二例患者中,先天性尿路异常和感染导致了暂时性PHA1。在婴儿盐耗竭综合征的鉴别诊断中应考虑假性醛固酮减少症,尤其是当伴有感染或先天性尿路缺陷时。

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