12.10.2024 | Scientific Letter
Aldosterone Synthase Deficiency: A Rare Cause of Salt-Wasting Syndrome in a Child
verfasst von:
Wiem Barbaria, Manel Bourcheda, Eya Karabibene, Jihene Jendoubi, Ichrak Khamassi
Erschienen in:
Indian Journal of Pediatrics
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Ausgabe 12/2024
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Excerpt
To the Editor: A 3-mo-old female infant presented with weight stagnation and dehydration. Born to non-consanguineous parents, she had normal clinical examination and anthropometric measurements at birth. On examination, she was dehydrated with significant anthropometric delays and aquired microcephalia. She was hemodynamically stable (Blood pressure: 101/63 mmHg). Laboratory findings indicated severe hyponatremia (119.6 mmol/L), metabolic acidosis, normal renal function, and normal potassium and glucose levels. Urine analysis showed high natriuresis (105 mmol/L/24 h) and polyuria (6 mL/kg/d). Renal ultrasound was normal. Congenital adrenal hyperplasia was ruled out based on normal levels of 17-hydroxy-progesterone [0.61 µg/L; Normal range (NR): 0.1–1.0 µg/L] and cortisol (483 nmol/L; NR: 138–580 nmol/L). Aldosterone synthase deficiency (ASD) was diagnosed based on low aldosterone (146.97 pmol/L; NR: 500–4450 pmol/L) and high plasma renin activity (192 pg/mL; NR: 18–120 pg/mL) without glucocorticoid deficiency. Genetic sequencing identified two homozygous mutations in the CYP11B2 gene: p.(Val386Ala) and p.(Glu198Asp). Treatment with fludrocortisone and sodium supplementation resulted in hormonal balance. Regular follow-up showed catch-up growth (weight and length − 0.6 z score at age 2 y), no dehydration episodes and normal psychomotor development. …