Müller-Berghaus J, Homoki J, Michalk D V, Querfeld U
Children's Hospital, University of Cologne, Germany.
Acta Paediatr. 1996 Jan;85(1):111-3. doi: 10.1111/j.1651-2227.1996.tb13903.x.
We report the case of a 16-month-old boy who presented with chronic vomiting, failure to thrive, arterial hypertension and medullary nephrocalcinosis. Laboratory results revealed hypokalaemia, metabolic alkalosis, increased urinary potassium excretion and a hyporeninaemic hypoaldosteronism. Chromatographic determination of urinary steroid metabolites showed an abnormal elevation of tetrahydrocortisol and allo-tetrahydrocortisol compared to tetrahydrocortisone; this pattern of urinary steroid excretion is essential for the diagnosis of the syndrome of apparent mineralocorticoid excess type 1 and believed to be a result of the underlying metabolic defect, a decreased activity of the 11 beta-hydroxysteroid dehydrogenase. A second variant, called syndrome of apparent mineralocorticoid excess type 2, has similar clinical features but lacks the typical urinary steroid profile. Therapy with spironolactone resulted in growth, weight gain and blood pressure control.
我们报告了一名16个月大男孩的病例，该男孩出现慢性呕吐、生长发育迟缓、动脉高血压和髓质性肾钙质沉着症。实验室检查结果显示低钾血症、代谢性碱中毒、尿钾排泄增加以及低肾素性低醛固酮血症。尿类固醇代谢物的色谱测定显示，与四氢可的松相比，四氢皮质醇和别四氢皮质醇异常升高；这种尿类固醇排泄模式对于1型表观盐皮质激素过多综合征的诊断至关重要，并且被认为是潜在代谢缺陷的结果，即11β-羟类固醇脱氢酶活性降低。第二种变体称为2型表观盐皮质激素过多综合征，具有相似的临床特征，但缺乏典型的尿类固醇谱。螺内酯治疗导致生长、体重增加和血压得到控制。
