Roy C, Cruveiller J, Harpey J P, Renault F, Debray P, Caille B
Sem Hop. 1982 Apr 15;58(15):927-32.
Pseudohypoaldosteronism (PHA) is an uncommon cause of the renal salt loosing syndrome in infancy. The authors describe eight cases in two different families. Hyperaldosteronism persists long after clinical recovery has occurred. Plasma hormone assay allows retrospective recognition of cases overlooked during infancy. This underlines the variability of disease expression among different members of the same family. The high family occurrence rate (over 50%), which is often underestimated, is demonstrated by the study of both families and by a review of published cases. Clinical and biochemical features of familial PHA are discussed. Inheritance is usually on an autosomal dominant basis. However, the small number of reported cases cannot allow any attempt to individualize subgroups of the disorder upon genetic grounds.
假性醛固酮减少症(PHA)是婴儿期肾性失盐综合征的一种罕见病因。作者描述了两个不同家庭中的8例病例。醛固酮增多症在临床恢复后仍持续很长时间。血浆激素检测可对婴儿期被忽视的病例进行回顾性诊断。这突出了同一家族不同成员之间疾病表现的变异性。通过对两个家庭的研究以及对已发表病例的回顾,证实了家族发病率较高(超过50%),而这一比例常常被低估。本文讨论了家族性PHA的临床和生化特征。遗传方式通常为常染色体显性遗传。然而,由于报告的病例数量较少,无法基于遗传学依据对该疾病的亚组进行个体化划分。