Khattab Ahmed M, Shackleton Cedric H L, Hughes Beverly A, Bodalia Jayesh B, New Maria I
J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):17-21. doi: 10.1515/jpem-2013-0235.
Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD). We report a 36-year-old male who was hypertensive from birth and was diagnosed with AME at 8 years of age. There was continuous documentation of his hypertension and hypokalemic alkalosis throughout childhood, during which spironolactone and supplemental potassium were administered. At 33 years of age, the patient received a renal transplant, and following this the AME appears to have been cured clinically with remission of his low renin hypertension and hypokalemic alkalosis despite termination of treatment with spironolactone and potassium supplements.
表观盐皮质激素过多综合征（AME）是一种常染色体隐性遗传病，由2型11β-羟类固醇脱氢酶（11β-HSD）缺乏引起。我们报告一名36岁男性，自出生起即患有高血压，8岁时被诊断为AME。在整个儿童期，他的高血压和低钾性碱中毒情况持续有记录，期间给予了螺内酯和补充钾治疗。33岁时，该患者接受了肾移植，此后尽管停用了螺内酯和钾补充剂，但AME在临床上似乎已治愈，其低肾素性高血压和低钾性碱中毒得到缓解。
