Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in
Bartter syndrome type II
KCNJ1 gene mutation
hypokalemia
late onset
nephrocalcinosis
Journal
Frontiers in medicine
ISSN: 2296-858X
Titre abrégé: Front Med (Lausanne)
Pays: Switzerland
ID NLM: 101648047
Informations de publication
Date de publication:
2022
2022
Historique:
received:
26
01
2022
accepted:
14
03
2022
entrez:
25
4
2022
pubmed:
26
4
2022
medline:
26
4
2022
Statut:
epublish
Résumé
Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the A 34-year-old woman was admitted with generalized body numbness and hand convulsions, without growth retardation. Laboratory tests revealed hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism, and nephrocalcinosis. She was misdiagnosed during the initial diagnosis process and was finally diagnosed with late-onset BS type II We report a case of late-onset BS type II with a novel compound heterozygous mutation in
Sections du résumé
Background
UNASSIGNED
Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the
Case Presentation
UNASSIGNED
A 34-year-old woman was admitted with generalized body numbness and hand convulsions, without growth retardation. Laboratory tests revealed hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism, and nephrocalcinosis. She was misdiagnosed during the initial diagnosis process and was finally diagnosed with late-onset BS type II
Conclusion
UNASSIGNED
We report a case of late-onset BS type II with a novel compound heterozygous mutation in
Identifiants
pubmed: 35463019
doi: 10.3389/fmed.2022.862514
pmc: PMC9021870
doi:
Types de publication
Case Reports
Langues
eng
Pagination
862514Informations de copyright
Copyright © 2022 Tian, Peng, Bi, Wang, Zhang, Wu and Zhang.
Déclaration de conflit d'intérêts
XB was employed by Guangzhou KingMed Center for Clinical Laboratory Co, Ltd. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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