Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review
X Ji, N Zhao, H Liu, Y Wu, L Liu - Frontiers in Genetics, 2024 - frontiersin.org
A 36-year-old unmarried male chef was incidentally diagnosed with hypokalemia during an
evaluation for an acute perianal abscess. Despite potassium supplementation, he …
evaluation for an acute perianal abscess. Despite potassium supplementation, he …
[HTML][HTML] Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing
L Yang, J Fan, Y Liu, Y Ren, Z Liu, H Fu, H Qi, J Yang - Medicine, 2023 - journals.lww.com
Interventions: She was given potassium and magnesium supplements, and dapagliflozin
was used to control her blood glucose. Outcomes: After treatments, her fatigue symptoms …
was used to control her blood glucose. Outcomes: After treatments, her fatigue symptoms …
著明な高血糖による入院を契機に診断された2 型糖尿病合併Gitelman 症候群の1 例
岩瀬正典， 井手均， 牟田大毅， 青谷領一郎， 平田詩乃… - 糖尿病, 2023 - jstage.jst.go.jp
抄録 症例は 53 歳の女性で清涼飲料水の多飲があり, 口渇と多尿のため受診した. 血糖 498
mg/dL, HbA1c 13.0%, 血清 C ペプチド 0.64 ng/mL, 肥満歴があり, 抗 GAD 抗体陰性のため 2 …
mg/dL, HbA1c 13.0%, 血清 C ペプチド 0.64 ng/mL, 肥満歴があり, 抗 GAD 抗体陰性のため 2 …