A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter's Syndrome in an Adult Female.
bartter syndrome
mage-d2 mutation
novel mutation
transient bartter syndrome
type v bartter syndrome
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
accepted:
24
04
2023
medline:
8
6
2023
pubmed:
8
6
2023
entrez:
8
6
2023
Statut:
epublish
Résumé
Bartter's syndrome (BS) is a disorder caused by a group of rare mutations that result in defective salt reabsorption in the thick ascending loop of Henle. BS is characterized by salt wasting, hypokalemia, and metabolic alkalosis, among other abnormalities. A MAGE-D2 mutation results in an X-linked form of BS. It results in a transient antenatal presentation that is observed to completely resolve by early infancy, usually occurring in males. We present a case of an adult female with intermittent recurrence of symptoms and metabolic derangements consistent with BS. She also has a family history of polyhydramnios and renal disease. Genetic testing later confirmed a novel MAGE-D2 mutation. Her atypical presentation emphasizes the heterogenous presentation of the different mutations and raises the possibility of persistence of abnormalities beyond infancy in mutations of the MAGE-D2 gene.
Identifiants
pubmed: 37288186
doi: 10.7759/cureus.38681
pmc: PMC10243719
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e38681Informations de copyright
Copyright © 2023, Albaba et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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