| Title: |
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2 ; Arch Pediatr |
| Authors: |
GERARD, Rémy; SAUVESTRE, Clément; BARAT, Pascal; HARAMBAT, Jerome; JANOT, Clément; MALLET, Delphine; ROUCHER-BOULEZ, Florence; ALLARD, Lise |
| Publication Year: |
2024 |
| Subject Terms: |
Aldosterone synthase deficiency; Newborn; Salt wasting syndrome; Sciences du Vivant [q-bio]/Santé publique et épidémiologie |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1016/j.arcped.2023.10.007 |
| Availability: |
https://oskar-bordeaux.fr/handle/20.500.12278/188290; https://hdl.handle.net/20.500.12278/188290; https://doi.org/10.1016/j.arcped.2023.10.007 |
| Rights: |
open ; Pas de Licence CC |
| Accession Number: |
edsbas.25480DA4 |
| Database: |
BASE |