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Article Dans Une Revue Archives de Pédiatrie Année : 2024

Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2

Rémy Gerard
  • Fonction : Auteur
Clément Sauvestre
  • Fonction : Auteur
Pascal Barat
  • Fonction : Auteur
Clément Janot
  • Fonction : Auteur
Delphine Mallet
  • Fonction : Auteur
Florence Roucher-Boulez
  • Fonction : Auteur
Lise Allard
  • Fonction : Auteur

Résumé

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder involving isolated aldosterone deficiency without any compromise of other adrenal hormones. This condition manifests mainly in the neonatal period and in infants as a salt wasting syndrome with vomiting and failure to thrive. Due to its potentially life-threatening effects, ASD requires a careful and early diagnosis based on appropriate hormonal investigations in order to initiate adequate management: rehydration as well as salt and fludrocortisone supplementation. Genetic analysis of the CYP11B2 gene will confirm ASD in most cases. We report the case of a newborn with a typical clinical presentation associated with some uncommon phenotypic features (hyperhidrosis, liver injury). Furthermore, our patient carries a new CYP11B2 splicing variant to be added to the approximately 60 pathogenic or likely pathogenic variants already reported.
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Dates et versions

hal-04470203 , version 1 (21-02-2024)

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Rémy Gerard, Clément Sauvestre, Pascal Barat, Jerome Harambat, Clément Janot, et al.. Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2. Archives de Pédiatrie, 2024, ⟨10.1016/j.arcped.2023.10.007⟩. ⟨hal-04470203⟩

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