PMID- 37327293
OWN - NLM
STAT- MEDLINE
DCOM- 20230619
LR  - 20230916
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 102
IP  - 24
DP  - 2023 Jun 16
TI  - Case report: Gitelman syndrome with diabetes: Confirmed by both 
      hydrochlorothiazide test and genetic testing.
PG  - e33959
LID - 10.1097/MD.0000000000033959 [doi]
LID - e33959
AB  - RATIONALE: Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by 
      mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic 
      alkalosis, hypomagnesemia and hypocalciuria. Hypokalemia, hypomagnesemia, and 
      increased renin-angiotensin-aldosterone system (RAAS) activity can cause glucose 
      metabolism dysfunction. The diagnosis of GS includes clinical diagnosis, genetic 
      diagnosis and functional diagnosis. The gene diagnosis is the golden criterion 
      while as functional diagnosis is of great value in differential diagnosis. The 
      hydrochlorothiazide (HCT) test is helpful to distinguish GS from batter syndrome, 
      but few cases have been reported to have HCT testing. PATIENT CONCERNS: A 
      51-year-old Chinese woman presented to emergency department because of 
      intermittent fatigue for more than 10 years. DIAGNOSES: Laboratory test results 
      showed hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. The 
      HCT test showed no response. Using next-generation and Sanger sequencing, we 
      identified 2 heterozygous missense variants (c.533C > T:p.S178L and c.2582G > 
      A:p.R861H) in the SLC12A3 gene. In addition, the patient was diagnosed with type 
      2 diabetes mellitus 7 years ago. Based on these findings, the patient was 
      diagnosed with GS with type 2 diabetic mellitus (T2DM). INTERVENTIONS: She was 
      given potassium and magnesium supplements, and dapagliflozin was used to control 
      her blood glucose. OUTCOMES: After treatments, her fatigue symptoms were reduced, 
      blood potassium and magnesium levels were increased, and blood glucose levels 
      were well controlled. LESSONS: When GS is considered in patients with unexplained 
      hypokalemia, the HCT test can be used for differential diagnosis, and genetic 
      testing can be continued to confirm the diagnosis when conditions are available. 
      GS patients often have abnormal glucose metabolism, which is mainly caused by 
      hypokalemia, hypomagnesemia, and secondary activation of RAAS. When a patient is 
      diagnosed with GS and type 2 diabetes, sodium-glucose cotransporter 2 inhibitors 
      (SGLT2i) can be used to control the blood glucose level and assist in raising 
      blood magnesium.
CI  - Copyright (c) 2023 the Author(s). Published by Wolters Kluwer Health, Inc.
FAU - Yang, Luyang
AU  - Yang L
AD  - Department of Endocrinology, First Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi Province, China.
AD  - Shanxi Medical University, Taiyuan, Shanxi Province, China.
FAU - Fan, Jinmeng
AU  - Fan J
AD  - Shanxi Medical University, Taiyuan, Shanxi Province, China.
FAU - Liu, Yunfeng
AU  - Liu Y
AD  - Department of Endocrinology, First Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi Province, China.
FAU - Ren, Yi
AU  - Ren Y
AD  - Department of Endocrinology, First Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi Province, China.
FAU - Liu, Zekun
AU  - Liu Z
AD  - Shanxi Medical University, Taiyuan, Shanxi Province, China.
FAU - Fu, Hairui
AU  - Fu H
AD  - Department of Orthopedics, Affiliated Fenyang Hospital of Shanxi Medical 
      University, Fenyang, Shanxi Province, China.
AD  - Department of Orthopedics, Affiliated Bethune Hospital of Shanxi Medical 
      University, Taiyuan, Shanxi Province, China.
FAU - Qi, Hao
AU  - Qi H
AUID- ORCID: 0000-0001-6448-3089
AD  - Department of Endocrinology, First Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi Province, China.
FAU - Yang, Jing
AU  - Yang J
AD  - Department of Endocrinology, First Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi Province, China.
AD  - Shanxi Medical University, Taiyuan, Shanxi Province, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (Solute Carrier Family 12, Member 3)
RN  - 0J48LPH2TH (Hydrochlorothiazide)
RN  - I38ZP9992A (Magnesium)
RN  - 0 (Blood Glucose)
RN  - RWP5GA015D (Potassium)
RN  - 0 (SLC12A3 protein, human)
SB  - IM
MH  - Humans
MH  - Female
MH  - Middle Aged
MH  - *Gitelman Syndrome/diagnosis/genetics/complications
MH  - *Hypokalemia/etiology/complications
MH  - *Diabetes Mellitus, Type 2/complications/drug therapy/genetics
MH  - Solute Carrier Family 12, Member 3/genetics
MH  - Hydrochlorothiazide/therapeutic use
MH  - Magnesium
MH  - Blood Glucose
MH  - Genetic Testing
MH  - Potassium
MH  - Fatigue/complications
PMC - PMC10270490
COIS- The study was supported by two Research Projects Supported by Shanxi Provincial 
      Department of Science and Technology (201804D131044, 201903D321127) and a 
      Research Project Supported by Shanxi Provincial Department of 
      Education(2021Y354). The authors have no conflicts of interest to declare.
EDAT- 2023/06/16 19:16
MHDA- 2023/06/19 13:08
PMCR- 2023/06/16
CRDT- 2023/06/16 13:43
PHST- 2023/06/19 13:08 [medline]
PHST- 2023/06/16 19:16 [pubmed]
PHST- 2023/06/16 13:43 [entrez]
PHST- 2023/06/16 00:00 [pmc-release]
AID - 00005792-202306160-00039 [pii]
AID - 10.1097/MD.0000000000033959 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2023 Jun 16;102(24):e33959. doi: 
      10.1097/MD.0000000000033959.