Dillon M J, Leonard J V, Buckler J M, Ogilvie D, Lillystone D, Honour J W, Shackleton C H
Arch Dis Child. 1980 Jun;55(6):427-34. doi: 10.1136/adc.55.6.427.
10 infants are described with pseudohypoaldosteronism, 5 in detail and a further 5 briefly. They all presented with hyperkalaemia, urinary salt-wasting disease, and ostensibly normal renal and adrenocortical function. Diagnosis was established by demonstrating the greatly increased values of plasma renin activity and plasma aldosterone concentration, plus the increased excretion of aldosterone and its metabolites on gas chromatographic and mass spectrometric analyses of urine. The children were treated with sodium chloride supplements, up to 60 mmol/day, but by the time most of the infants were about a year old these could be stopped. Exogenous mineralocorticoids were without effect in those to whom they were administered. The precise aetiology of the condition remains conjectural; lack of renal tubular response to aldosterone seems probable. Pseudohypoaldosteronism may be more common than has been thought and new techniques for investigating salt-wasting disorders may show its true incidence.
本文描述了10例假性醛固酮减少症患儿，其中5例详细描述，另5例简要描述。他们均表现为高钾血症、尿失盐疾病，且肾脏和肾上腺皮质功能表面上正常。通过检测血浆肾素活性和血浆醛固酮浓度大幅升高，以及对尿液进行气相色谱和质谱分析显示醛固酮及其代谢产物排泄增加来确诊。患儿接受氯化钠补充治疗，每日剂量高达60 mmol，但大多数婴儿到1岁左右时可停用。外源性盐皮质激素对接受治疗的患儿无效。该病的确切病因仍属推测；肾小管对醛固酮缺乏反应似乎很可能。假性醛固酮减少症可能比人们认为的更常见，研究失盐性疾病的新技术可能会揭示其真实发病率。
