Salt-Wasting Syndrome in a Child

A report describes a case of a 3-month-old female infant who presented with weight stagnation and dehydration. Examination revealed the child to be dehydrated with significant anthropometric delays and acquired microcephalia. Her Blood pressure was normal, but Laboratory findings indicated severe hyponatremia (119.6 mmol/L), metabolic acidosis, normal renal function, and normal potassium and glucose levels. Urine analysis revealed high natriuresis (105 mmol/L/24 h) and polyuria (6 mL/kg/d). Renal ultrasound was normal. 

The suspicion of Congenital adrenal hyperplasia was ruled out founded on normal levels of 17-hydroxy-progesterone and cortisol however, Aldosterone synthase deficiency (ASD) was diagnosed based on low aldosterone (146.97 pmol/L; Normal range: 500–4450 pmol/L) and high plasma renin activity (192 pg/mL; Normal range: 18–120 pg/mL) without glucocorticoid deficiency. Furthermore, genetic sequencing was conducted to identify two homozygous mutations in the CYP11B2 gene: p.(Val386Ala) and p.(Glu198Asp). 

The patient was treated with fludrocortisone and sodium supplementation that caused hormonal balance. Regular follow-up showed catch-up growth and normal psychomotor development, without any dehydration episodes.

Barbaria W, Bourcheda M, Karabibene E. et al. Aldosterone Synthase Deficiency: A Rare Cause of Salt-Wasting Syndrome in a Child. Indian J Pediatr.2024. https://doi.org/10.1007/s12098-024-05280-1