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Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2
| dc.rights.license | open | en_US |
| dc.contributor.author | GERARD, Rémy | |
| dc.contributor.author | SAUVESTRE, Clément | |
| dc.contributor.author | BARAT, Pascal | |
| hal.structure.identifier | Bordeaux population health [BPH] | |
| dc.contributor.author | HARAMBAT, Jerome
IDREF: 110567358 | |
| dc.contributor.author | JANOT, Clément | |
| dc.contributor.author | MALLET, Delphine | |
| dc.contributor.author | ROUCHER-BOULEZ, Florence | |
| dc.contributor.author | ALLARD, Lise | |
| dc.date.accessioned | 2024-02-21T09:10:15Z | |
| dc.date.available | 2024-02-21T09:10:15Z | |
| dc.date.issued | 2024-02-01 | |
| dc.identifier.issn | 1769-664X | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/188290 | |
| dc.description.abstractEn | 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. | |
| dc.language.iso | EN | en_US |
| dc.subject.en | Aldosterone synthase deficiency | |
| dc.subject.en | Newborn | |
| dc.subject.en | Salt wasting syndrome | |
| dc.title.en | Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2 | |
| dc.title.alternative | Arch Pediatr | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1016/j.arcped.2023.10.007 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Santé publique et épidémiologie | en_US |
| dc.identifier.pubmed | 38262861 | en_US |
| bordeaux.journal | Archives de Pédiatrie | en_US |
| bordeaux.hal.laboratories | Bordeaux Population Health Research Center (BPH) - UMR 1219 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.team | LEHA_BPH | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-04470203 | |
| hal.version | 1 | |
| hal.date.transferred | 2024-02-21T09:10:17Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Archives%20de%20P%C3%A9diatrie&rft.date=2024-02-01&rft.eissn=1769-664X&rft.issn=1769-664X&rft.au=GERARD,%20R%C3%A9my&SAUVESTRE,%20Cl%C3%A9ment&BARAT,%20Pascal&HARAMBAT,%20Jerome&JANOT,%20Cl%C3%A9ment&rft.genre=article |
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