Milla P J, Trompeter R, Dillon M J, Robins D, Shackleton C
Arch Dis Child. 1977 Jul;52(7):580-6. doi: 10.1136/adc.52.7.580.
Two infants presented with a salt-losing syndrome, the presenting features of which were subtle. One case appeared to be transient. Deficient production of aldosterone was shown by plasma renin activity and plasma aldosterone profile. Gas chromatography-mass spectrometry of urine indicated a defect in 18-dehydrogenation of 18-hydroxycorticosterone. Treatment with salt supplements and 9alpha-fludrocortisone reversed the salt-losing state and in one case treatment was later stopped. Although the disease may appear transient, the biochemical defect is persistent and for adequate growth a positive salt-balance is necessary.
两名婴儿出现失盐综合征，其临床表现不明显。其中一例似乎是暂时性的。血浆肾素活性和血浆醛固酮水平显示醛固酮分泌不足。尿液的气相色谱-质谱分析表明18-羟皮质酮的18-脱氢存在缺陷。补充盐分和使用9α-氟氢可的松治疗可逆转失盐状态，其中一例后来停止了治疗。尽管该病可能表现为暂时性，但生化缺陷是持续性的，为实现充分生长，保持正盐平衡是必要的。
