Abstract
Extract: In one case studied from the neonatal period through a follow-up period at almost five years of age, a salt-losing syndrome could be related to a defect in 18-OH-dehydrogenase.
In the intial course of the disease, treatment with desoxycorticosterone acetate controlled the salt-losing tendency. At that time, the rate of aldosterone secretion was less than 10 μg/day and that of urinary tetrahydroaldosterone was less than μg/day. In contrast, the rate of corticosterone secretion was 5400 μg/day and the F:B ratio was 0.8. Urinary 18 hydroxytetrahydro A (18 OH-THA) was increased to 128 μg/24 h. There was no cortisol insufficiency; secretion rate was 20 mg m2/day and plasma ACTH 0.24 mU/100 ml plasma. At 20 months of age, treatment was stopped because of hypernatremia. From that time on, the child was clinically normal and received no salt supplement.
The hormonal results were as follows: At 22 months of age, the secretion rate of aldosterone was less than 5 μg/day and of corticosterone was 8600μg/day on the sixth day of a well-tolerated salt suppression test. 18 OH-THA was 116μg/day; the F:B ratio for urinary metabolites was low, 0.9.
At 3 years and 7 months of age, excretion of urinary tetrahydroaldosterone was 10 μg/day, 18 OH-THA was in the normal range, and the F:B ratio remained low, 0.6 (normal salt intake).
At 4 years and six months of age, secretion rate was 19 μg/day and the 18 hydrocorticosterone secretion rate was 470 μg/day (ratio 18 OH-B: aldosterone 24.7). Plasma renin activity was 88.8 ng/l/min.
The brother of the propositus was observed when 6 years of age. Urinary tetrahydrosterone was 27 μg/day, 18 OH-THA was 75/μg/day, and the urinary F:B ratio was 0.7 while receiving a normal salt intake.
The spontaneous clinical improvement of subjects with the salt-losing syndrome is possibly related to the appearance of a certain amount of aldosterone, an increase in secretion of corticosterone, and modification in salt content of a normal diet during this period.
Speculation: A salt-losing syndrome due to 18-OH-dehydrogenase deficiency, probably familial, improved spontaneously. Long-term studies showed persistence of the biosynthetic defect. The data presented raise questions concerning clinical recovery that could be correlated with steroid administration and, possibly, with modifications in sodium homeostasis at that period of life.
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Rappaport, R., Dray, F., Legrand, J. et al. Hypoaldostéronisme congénital familial par défaut de la 18-OH-déhydrogénase: Etude hormonale avant et après guérison du syndrome de perte de sel. Pediatr Res 2, 456–463 (1968). https://doi.org/10.1203/00006450-196811000-00003
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DOI: https://doi.org/10.1203/00006450-196811000-00003