Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous
Adult
Female
Genetic Predisposition to Disease
/ genetics
Gitelman Syndrome
/ complications
Hashimoto Disease
/ complications
Heterozygote
Humans
Hypokalemia
/ complications
Kidney Glomerulus
/ pathology
Magnesium
/ metabolism
Male
Mutation
Mutation, Missense
Pedigree
Phenotype
Proteinuria
/ complications
Receptors, Drug
Sodium Chloride Symporters
Solute Carrier Family 12, Member 3
/ genetics
Journal
BioMed research international
ISSN: 2314-6141
Titre abrégé: Biomed Res Int
Pays: United States
ID NLM: 101600173
Informations de publication
Date de publication:
2021
2021
Historique:
received:
18
03
2021
revised:
25
04
2021
accepted:
03
05
2021
entrez:
28
5
2021
pubmed:
29
5
2021
medline:
21
9
2021
Statut:
epublish
Résumé
Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing renal tubular disease, which is caused by a pathogenic mutation of
Identifiants
pubmed: 34046503
doi: 10.1155/2021/9973161
pmc: PMC8128541
doi:
Substances chimiques
Receptors, Drug
0
SLC12A3 protein, human
0
Sodium Chloride Symporters
0
Solute Carrier Family 12, Member 3
0
thiazide receptor
0
Magnesium
I38ZP9992A
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
9973161Informations de copyright
Copyright © 2021 Jian-hui Zhang et al.
Déclaration de conflit d'intérêts
The authors do not have any conflicts of interest to declare.
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