Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus.
Chronic kidney disease
Gitelman syndrome
Hypokalemia
SLC12A3
Type 2 diabetes mellitus
Journal
CEN case reports
ISSN: 2192-4449
Titre abrégé: CEN Case Rep
Pays: Japan
ID NLM: 101636244
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
27
07
2021
accepted:
28
09
2021
pubmed:
8
10
2021
medline:
6
5
2022
entrez:
7
10
2021
Statut:
ppublish
Résumé
Gitelman syndrome is an autosomal recessive genetic disease caused by pathogenic variants in SLC12A3 resulting in the loss of function of the Na-Cl co-transporter (NCC) in the distal tubules. Hypokalemia and diuretic effects can cause secondary type 2 diabetes and renal function decline. Here, we present the case of a 49-year-old male patient with chronic persistent treatment-resistant hypokalemia for the past 13 years who had been receiving treatment for type 2 diabetes mellitus for 6 years. He was referred to our department due to the presence of urinary protein, impaired renal function, high renin activity, and hyperaldosteronism. Laboratory test results showed hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Using next-generation and Sanger sequencing, we identified a novel stop-gain variant (NM_000339.3:c.137del [p.His47fs]) and a missense variant (NM_000339.3:c.2927C > T [p.Ser976Phe]) in the SLC12A3 gene. This novel pathogenic variant was located at the intracellular N-terminus of the NCC. Based on these findings, the patient was diagnosed with Gitelman syndrome. The use of next-generation sequencing facilitated the exclusion of diseases with similar clinical symptoms.
Identifiants
pubmed: 34617250
doi: 10.1007/s13730-021-00652-4
pii: 10.1007/s13730-021-00652-4
pmc: PMC9061911
doi:
Substances chimiques
SLC12A3 protein, human
0
Solute Carrier Family 12, Member 3
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
191-195Informations de copyright
© 2021. Japanese Society of Nephrology.
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