PMID- 32702863
OWN - NLM
STAT- MEDLINE
DCOM- 20200803
LR  - 20221005
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 99
IP  - 29
DP  - 2020 Jul 17
TI  - Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case 
      report.
PG  - e21123
LID - 10.1097/MD.0000000000021123 [doi]
LID - e21123
AB  - INTRODUCTION: Gitelman syndrome (GS) is an autosomal-recessive disease caused by 
      SLC12A3 gene mutations. It is characterized by hypokalemic metabolic alkalosis in 
      combination with hypomagnesemia and hypocalciuria. Recently, patients with GS are 
      found at an increased risk for developing type 2 diabetes mellitus (T2DM). 
      However, diagnosis of hyperglycemia in GS patients has not been thoroughly 
      investigated, and family studies on SLC12A3 mutations and glucose metabolism are 
      rare. Whether treatment including potassium and magnesium supplements, and 
      spironolactone can ameliorate impaired glucose tolerance in GS patients, also 
      needs to be investigated. PATIENT CONCERNS: We examined a 55-year-old Chinese 
      male with intermittent fatigue and persistent hypokalemia for 17 years. 
      DIAGNOSES: Based on the results of the clinical data, including electrolytes, 
      oral glucose tolerance test (OGTT), and genetic analysis of the SLC12A3 gene, GS 
      and T2DM were newly diagnosed in the patient. Two mutations of the SLC12A3 gene 
      were found in the patient, one was a missense mutation p.N359K in exon 8, and the 
      other was a novel insert mutation p.I262delinsIIGVVSV in exon 6. SLC12A3 genetic 
      analysis and OGTT of 9 other family members within 3 generations were also 
      performed. Older brother, youngest sister, and son of the patient carried the 
      p.N359K mutation in exon 8. The older brother and the youngest sister were 
      diagnosed with T2DM and impaired glucose tolerance by OGTT, respectively. 
      INTERVENTIONS: The patient was prescribed potassium and magnesium (potassium 
      magnesium aspartate, potassium chloride) oral supplements and spironolactone. The 
      patient was also suggested to maintain a high potassium diet. Acarbose was used 
      to maintain the blood glucose levels. OUTCOMES: The electrolyte imbalance 
      including hypokalemia and hypomagnesemia, and hyperglycemia were improved with a 
      remission of the clinical manifestations. CONCLUSION: GS is one of the causes for 
      manifestation of hypokalemia. SLC12A3 genetic analysis plays an important role in 
      diagnosis of GS. Chinese male GS patients characterized with heterozygous SLC12A3 
      mutation should be careful toward occurrence of T2DM. Moreover, the patients with 
      only 1 SLC12A3 mutant allele should pay regular attention to blood potassium and 
      glucose levels. GS treatment with potassium and magnesium supplements, and 
      spironolactone can improve impaired glucose metabolism.
FAU - He, Guangyu
AU  - He G
AD  - Department of Endocrinology and Metabolism.
FAU - Gang, Xiaokun
AU  - Gang X
AD  - Department of Endocrinology and Metabolism.
FAU - Sun, Zhonghua
AU  - Sun Z
AD  - Department of Endocrinology and Metabolism.
FAU - Wang, Ping
AU  - Wang P
AD  - Department of Otolaryngology-Head and Neck Surgery, The First Hospital of Jilin 
      University, Changchun, Jilin, P.R. China.
FAU - Wang, Guixia
AU  - Wang G
AD  - Department of Endocrinology and Metabolism.
FAU - Guo, Weiying
AU  - Guo W
AUID- ORCID: 0000-0002-7887-0888
AD  - Department of Endocrinology and Metabolism.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (SLC12A3 protein, human)
RN  - 0 (Solute Carrier Family 12, Member 3)
SB  - IM
MH  - Diabetes Mellitus, Type 2/*etiology/physiopathology
MH  - Fatigue/etiology
MH  - Gitelman Syndrome/*complications/physiopathology
MH  - Humans
MH  - Hypokalemia/*etiology/physiopathology
MH  - Male
MH  - Middle Aged
MH  - Mutation/genetics
MH  - Solute Carrier Family 12, Member 3/genetics
PMC - PMC7373581
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2020/07/25 06:00
MHDA- 2020/08/04 06:00
PMCR- 2020/07/17
CRDT- 2020/07/25 06:00
PHST- 2020/07/25 06:00 [entrez]
PHST- 2020/07/25 06:00 [pubmed]
PHST- 2020/08/04 06:00 [medline]
PHST- 2020/07/17 00:00 [pmc-release]
AID - 00005792-202007170-00058 [pii]
AID - MD-D-19-06445 [pii]
AID - 10.1097/MD.0000000000021123 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2020 Jul 17;99(29):e21123. doi: 
      10.1097/MD.0000000000021123.