Salt-losing syndrome in 2 infants with defective 18-dehydrogenation in aldosterone biosynthesis.

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Abstract
Two infants presented with a salt-losing syndrome, one of which 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 9.alpha.-fludrocortisone reversed the salt-losing state and in 1 case treatment was later stopped. Although the disease appeared transient, the biochemical defect was persistent and for adequate growth a positive salt-balance was necessary.