Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency

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Abstract
Eight infants (6 female, 2 male) with salt-losing congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency were studied to determine the sodium deficit at diagnosis and the level of salt supplement required in addition to subsequent hormone replacement. The median sodium deficit at diagnosis was 34 mmol (range 16–78) or 10.5 mmol/kg (range 4–24). A mean sodium supplement of 2.2 mmol/kg per day (range 0.5–4.9), double the amount provided with feeds, was required to maintain plasma sodium concentration and plasma renin activity (PRA) in the normal range for age. We present an equation based on sodium output (urine), sodium input (feeding plus supplement) and plasma sodium concentration to calculate the sodium supplement needed to maintain sodium balance on hormone replacement in this condition and some practical management suggestions. The necessity for salt supplements is often underestimated and the salt-losing tendency exacerbated by infection remains an unnecessary reason for hospitalization during the first months of life. In patients with salt-losing CAH life-long mineralocorticoid treatment is necessary but additional salt supplements are needed to maintain plasma sodium concentration and PRA in the normal range during infancy.