Veenhoven R H, Vande Walle J G, Donckerwolcke R A, Wit J M, Griffiven A W, Derkx F H, Schalekamp M A
Department of Paediatrics, University of Utrecht, The Netherlands.
Pediatr Nephrol. 1991 Nov;5(6):680-4. doi: 10.1007/BF00857870.
A boy with functional abnormalities of the gastro-intestinal tract, hyponatraemia, hypokalaemia and hypertension is described. All symptoms developed within the first 2 months of life. Increased aldosterone levels were associated with suppressed values in the renin-angiotensin system. The diagnosis of idiopathic hyperaldosteronism was made because of adrenal hyperplasia and the failure to suppress aldosterone to undetectable levels with glucocorticoids. Treatment with spironolactone alone, or in combination with either intravenous dopamine or ibopamine orally, amiloride, enalapril, hydralazine or clonidine corrected serum potassium values but failed to normalize blood pressure and to correct plasma renin activity and plasma aldosterone. However, the combination of spironolactone with nifedipine decreased blood pressure. Abnormal gastro-intestinal motility was corrected by low doses of oral magnesium hydroxide. To assess intracellular calcium homeostasis, the patient's peripheral blood mononuclear cells were incubated with increasing concentrations of calcium. As these cells failed to maintain physiological calcium concentration, a defect in intracellular calcium homeostasis was suspected.
描述了一名患有胃肠道功能异常、低钠血症、低钾血症和高血压的男孩。所有症状均在出生后的头2个月内出现。醛固酮水平升高与肾素-血管紧张素系统的值受到抑制有关。由于肾上腺增生以及使用糖皮质激素未能将醛固酮抑制到无法检测的水平,故诊断为特发性醛固酮增多症。单独使用螺内酯治疗,或与静脉注射多巴胺或口服异波帕明、氨氯吡咪、依那普利、肼屈嗪或可乐定联合使用,可纠正血清钾值,但未能使血压正常化,也未能纠正血浆肾素活性和血浆醛固酮。然而,螺内酯与硝苯地平联合使用可降低血压。低剂量口服氢氧化镁可纠正异常的胃肠动力。为评估细胞内钙稳态,将患者的外周血单核细胞与浓度不断增加的钙一起孵育。由于这些细胞未能维持生理钙浓度,怀疑存在细胞内钙稳态缺陷。