Veldhuis J D, Kulin H E, Santen R J, Wilson T E, Melby J C
N Engl J Med. 1980 Jul 17;303(3):117-21. doi: 10.1056/NEJM198007173030301.
Profound salt wasting developed in a male infant who had marked reductions in serum and urinary aldosterone concentrations despite striking hyperreninemia. Coincident elevations in plasma and urinary levels of specific 18-hydroxysteroids localized the defect to corticosterone methyl oxidase Type II, the adrenal enzyme responsible for the final step of aldosterone synthesis. Salt replacement but not hydrocortisone ameliorated the clinical and metabolic abnormalities. Evaluation of 33 other family members disclosed the biochemical disorder in six other subjects who were affected in an autosomal-recessive pattern with variably severe clinical manifestations and abnormal ratios of 18-hydroxycorticosterone (or its metabolites) to aldosterone. This inborn error in aldosterone biosynthesis must be distinguished from other heritable, salt-losing defects in adrenal steroidogenesis.
一名男婴出现严重的盐耗竭，尽管有显著的高肾素血症，但血清和尿醛固酮浓度却显著降低。血浆和尿中特定18-羟类固醇水平同时升高，将缺陷定位到皮质酮甲基氧化酶II型，这是一种负责醛固酮合成最后一步的肾上腺酶。补充盐分而非氢化可的松改善了临床和代谢异常。对其他33名家庭成员的评估发现，另有6名受试者存在这种生化紊乱，他们以常染色体隐性模式受影响，临床表现轻重不一，18-羟皮质酮（或其代谢产物）与醛固酮的比例异常。这种醛固酮生物合成的先天性错误必须与肾上腺类固醇生成中其他遗传性失盐缺陷相区分。
