Kitanaka S, Tanae A, Hibi I
Division of Endocrinology and Metabolism, National Children's Hospital, Tokyo, Japan.
Clin Endocrinol (Oxf). 1996 Mar;44(3):353-9. doi: 10.1046/j.1365-2265.1996.677500.x.
A Japanese boy with apparent mineralocorticoid excess (AME) is described. He was born with intrauterine growth retardation (IUGR) and elevated serum level of creatine phosphokinase (CPK). He was studied at 2 years of age because of polyurea and polydipsia of one year's duration and was found to have hypokalaemic alkalosis and sustained hypertension. His plasma renin activity and aldosterone levels were always low and his ratio of urinary tetrahydrocortisol plus allo-tetrahydrocortisol to that of tetrahydrocortisone was very high. Therefore, AME due to 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) deficiency was diagnosed. He was successfully treated with a combination of spironolactone and nifedipine for at least 16 months. His blood pressure, plasma pH and serum potassium levels were normalized by this treatment, but serum CPK level remained high. We researched the birth records of previously reported AME cases and found that IUGR is a characteristic feature of AME. The mechanism by which IUGR occurs in AME is discussed and we speculate that 11 beta-HSD might be deficient in the placenta and/or fetal tissues, as well as in the kidney, in AME. An explanation for the elevated CPK could not be found.
本文描述了一名患有明显盐皮质激素过多症（AME）的日本男孩。他出生时患有宫内生长迟缓（IUGR），血清肌酸磷酸激酶（CPK）水平升高。由于持续一年的多尿和多饮，他在2岁时接受了检查，发现患有低钾性碱中毒和持续性高血压。他的血浆肾素活性和醛固酮水平一直很低，尿四氢皮质醇加别四氢皮质醇与四氢可的松的比值非常高。因此，诊断为因11β-羟类固醇脱氢酶（11β-HSD）缺乏导致的AME。他接受螺内酯和硝苯地平联合治疗至少16个月，治疗效果良好。通过该治疗，他的血压、血浆pH值和血清钾水平恢复正常，但血清CPK水平仍高。我们研究了先前报道的AME病例的出生记录，发现IUGR是AME的一个特征。本文讨论了AME中IUGR发生的机制，我们推测在AME中，11β-HSD可能在胎盘和/或胎儿组织以及肾脏中缺乏。但未能找到CPK升高的原因。
