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Kir6.2-Associated Diabetes Mellitus

MedGen UID:
1390291
•Concept ID:
C4330524
•
Disease or Syndrome

Definition

Diabetes mellitus caused by activating mutation(s) in the KCNJ11 gene, encoding the inwardly rectifying Kir6.2 subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the KCNJ11 gene result in hyperinsulinism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKir6.2-Associated Diabetes Mellitus

Professional guidelines

PubMed

American Association of Clinical Endocrinology Clinical Practice Guideline for the Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Primary Care and Endocrinology Clinical Settings: Co-Sponsored by the American Association for the Study of Liver Diseases (AASLD).
Cusi K, Isaacs S, Barb D, Basu R, Caprio S, Garvey WT, Kashyap S, Mechanick JI, Mouzaki M, Nadolsky K, Rinella ME, Vos MB, Younossi Z
Endocr Pract 2022 May;28(5):528-562. doi: 10.1016/j.eprac.2022.03.010. PMID: 35569886
KDIGO 2020 Clinical Practice Guideline for Diabetes Management in Chronic Kidney Disease.
Kidney Disease: Improving Global Outcomes (KDIGO) Diabetes Work Group
Kidney Int 2020 Oct;98(4S):S1-S115. doi: 10.1016/j.kint.2020.06.019. PMID: 32998798
Treatment of Diabetes in Older Adults: An Endocrine Society* Clinical Practice Guideline.
LeRoith D, Biessels GJ, Braithwaite SS, Casanueva FF, Draznin B, Halter JB, Hirsch IB, McDonnell ME, Molitch ME, Murad MH, Sinclair AJ
J Clin Endocrinol Metab 2019 May 1;104(5):1520-1574. doi: 10.1210/jc.2019-00198. PMID: 30903688Free PMC Article

Recent clinical studies

Etiology

Highlighting Diabetes Mellitus: The Epidemic Continues.
Schmidt AM
Arterioscler Thromb Vasc Biol 2018 Jan;38(1):e1-e8. doi: 10.1161/ATVBAHA.117.310221. PMID: 29282247Free PMC Article
Sex and Gender Differences in Risk, Pathophysiology and Complications of Type 2 Diabetes Mellitus.
Kautzky-Willer A, Harreiter J, Pacini G
Endocr Rev 2016 Jun;37(3):278-316. Epub 2016 May 9 doi: 10.1210/er.2015-1137. PMID: 27159875Free PMC Article
Diagnosis and classification of diabetes mellitus.
American Diabetes Association
Diabetes Care 2011 Jan;34 Suppl 1(Suppl 1):S62-9. doi: 10.2337/dc11-S062. PMID: 21193628Free PMC Article
Obesity and type 2 diabetes.
Maggio CA, Pi-Sunyer FX
Endocrinol Metab Clin North Am 2003 Dec;32(4):805-22, viii. doi: 10.1016/s0889-8529(03)00071-9. PMID: 14711063
Diabetes mellitus and its chronic complications.
Bailes BK
AORN J 2002 Aug;76(2):266-76, 278-82; quiz 283-6. doi: 10.1016/s0001-2092(06)61065-x. PMID: 12194653

Diagnosis

The Prevention of Diabetes Mellitus.
JAMA 2021 Jan 12;325(2):190. doi: 10.1001/jama.2020.17738. PMID: 33433568
Sex and Gender Differences in Risk, Pathophysiology and Complications of Type 2 Diabetes Mellitus.
Kautzky-Willer A, Harreiter J, Pacini G
Endocr Rev 2016 Jun;37(3):278-316. Epub 2016 May 9 doi: 10.1210/er.2015-1137. PMID: 27159875Free PMC Article
Definition, classification and diagnosis of diabetes mellitus.
Kerner W, Brückel J; German Diabetes Association
Exp Clin Endocrinol Diabetes 2014 Jul;122(7):384-6. Epub 2014 Jul 11 doi: 10.1055/s-0034-1366278. PMID: 25014088
Diagnosis and classification of diabetes mellitus.
American Diabetes Association
Diabetes Care 2013 Jan;36 Suppl 1(Suppl 1):S67-74. doi: 10.2337/dc13-S067. PMID: 23264425Free PMC Article
Diagnosis and classification of diabetes mellitus.
American Diabetes Association
Diabetes Care 2011 Jan;34 Suppl 1(Suppl 1):S62-9. doi: 10.2337/dc11-S062. PMID: 21193628Free PMC Article

Therapy

Conducting Real-world Evidence Studies on the Clinical Outcomes of Diabetes Treatments.
Schneeweiss S, Patorno E
Endocr Rev 2021 Sep 28;42(5):658-690. doi: 10.1210/endrev/bnab007. PMID: 33710268Free PMC Article
Treatment of Diabetic Kidney Disease: Current and Future.
Yamazaki T, Mimura I, Tanaka T, Nangaku M
Diabetes Metab J 2021 Jan;45(1):11-26. Epub 2021 Jan 22 doi: 10.4093/dmj.2020.0217. PMID: 33508907Free PMC Article
Validation of Time in Range as an Outcome Measure for Diabetes Clinical Trials.
Beck RW, Bergenstal RM, Riddlesworth TD, Kollman C, Li Z, Brown AS, Close KL
Diabetes Care 2019 Mar;42(3):400-405. Epub 2018 Oct 23 doi: 10.2337/dc18-1444. PMID: 30352896Free PMC Article
Ozone therapy for treating foot ulcers in people with diabetes.
Liu J, Zhang P, Tian J, Li L, Li J, Tian JH, Yang K
Cochrane Database Syst Rev 2015 Oct 27;2015(10):CD008474. doi: 10.1002/14651858.CD008474.pub2. PMID: 26505864Free PMC Article
Diabetes and biomarkers.
Caveney EJ, Cohen OJ
J Diabetes Sci Technol 2011 Jan 1;5(1):192-7. doi: 10.1177/193229681100500127. PMID: 21303644Free PMC Article

Prognosis

Global, regional, and national burden and trend of diabetes in 195 countries and territories: an analysis from 1990 to 2025.
Lin X, Xu Y, Pan X, Xu J, Ding Y, Sun X, Song X, Ren Y, Shan PF
Sci Rep 2020 Sep 8;10(1):14790. doi: 10.1038/s41598-020-71908-9. PMID: 32901098Free PMC Article
Effects of periodontal disease on glycemic control, complications, and incidence of diabetes mellitus.
Genco RJ, Graziani F, Hasturk H
Periodontol 2000 2020 Jun;83(1):59-65. doi: 10.1111/prd.12271. PMID: 32385875
Worldwide estimates of incidence, prevalence and mortality of type 1 diabetes in children and adolescents: Results from the International Diabetes Federation Diabetes Atlas, 9th edition.
Patterson CC, Karuranga S, Salpea P, Saeedi P, Dahlquist G, Soltesz G, Ogle GD
Diabetes Res Clin Pract 2019 Nov;157:107842. Epub 2019 Sep 10 doi: 10.1016/j.diabres.2019.107842. PMID: 31518658
Diet, physical activity or both for prevention or delay of type 2 diabetes mellitus and its associated complications in people at increased risk of developing type 2 diabetes mellitus.
Hemmingsen B, Gimenez-Perez G, Mauricio D, Roqué I Figuls M, Metzendorf MI, Richter B
Cochrane Database Syst Rev 2017 Dec 4;12(12):CD003054. doi: 10.1002/14651858.CD003054.pub4. PMID: 29205264Free PMC Article
Mortality and Cardiovascular Disease in Type 1 and Type 2 Diabetes.
Rawshani A, Rawshani A, Franzén S, Eliasson B, Svensson AM, Miftaraj M, McGuire DK, Sattar N, Rosengren A, Gudbjörnsdottir S
N Engl J Med 2017 Apr 13;376(15):1407-1418. doi: 10.1056/NEJMoa1608664. PMID: 28402770

Clinical prediction guides

Diabetes and Myocardial Fibrosis: A Systematic Review and Meta-Analysis.
Salvador DB Jr, Gamba MR, Gonzalez-Jaramillo N, Gonzalez-Jaramillo V, Raguindin PFN, Minder B, Gräni C, Wilhelm M, Stettler C, Doria A, Franco OH, Muka T, Bano A
JACC Cardiovasc Imaging 2022 May;15(5):796-808. Epub 2022 Feb 16 doi: 10.1016/j.jcmg.2021.12.008. PMID: 35512952
Development and validation of the CHIME simulation model to assess lifetime health outcomes of prediabetes and type 2 diabetes in Chinese populations: A modeling study.
Quan J, Ng CS, Kwok HHY, Zhang A, Yuen YH, Choi CH, Siu SC, Tang SY, Wat NM, Woo J, Eggleston K, Leung GM
PLoS Med 2021 Jun;18(6):e1003692. Epub 2021 Jun 24 doi: 10.1371/journal.pmed.1003692. PMID: 34166382Free PMC Article
A data-driven approach to predicting diabetes and cardiovascular disease with machine learning.
Dinh A, Miertschin S, Young A, Mohanty SD
BMC Med Inform Decis Mak 2019 Nov 6;19(1):211. doi: 10.1186/s12911-019-0918-5. PMID: 31694707Free PMC Article
Systems analysis and the prediction and prevention of Type 2 diabetes mellitus.
Bergman RN, Stefanovski D, Kim SP
Curr Opin Biotechnol 2014 Aug;28:165-70. Epub 2014 Jun 27 doi: 10.1016/j.copbio.2014.05.007. PMID: 24976265Free PMC Article
The diabetes risk score: a practical tool to predict type 2 diabetes risk.
Lindström J, Tuomilehto J
Diabetes Care 2003 Mar;26(3):725-31. doi: 10.2337/diacare.26.3.725. PMID: 12610029

Recent systematic reviews

The Impact of Vegan Diet in the Prevention and Treatment of Type 2 Diabetes: A Systematic Review.
Pollakova D, Andreadi A, Pacifici F, Della-Morte D, Lauro D, Tubili C
Nutrients 2021 Jun 21;13(6) doi: 10.3390/nu13062123. PMID: 34205679Free PMC Article
Self-Care in Adults with Type 2 Diabetes Mellitus: A Systematic Review.
da Rocha RB, Silva CS, Cardoso VS
Curr Diabetes Rev 2020;16(6):598-607. doi: 10.2174/1573399815666190702161849. PMID: 31267873
Cardiovascular, mortality, and kidney outcomes with GLP-1 receptor agonists in patients with type 2 diabetes: a systematic review and meta-analysis of cardiovascular outcome trials.
Kristensen SL, Rørth R, Jhund PS, Docherty KF, Sattar N, Preiss D, Køber L, Petrie MC, McMurray JJV
Lancet Diabetes Endocrinol 2019 Oct;7(10):776-785. Epub 2019 Aug 14 doi: 10.1016/S2213-8587(19)30249-9. PMID: 31422062
Related factors of quality of life of type 2 diabetes patients: a systematic review and meta-analysis.
Jing X, Chen J, Dong Y, Han D, Zhao H, Wang X, Gao F, Li C, Cui Z, Liu Y, Ma J
Health Qual Life Outcomes 2018 Sep 19;16(1):189. doi: 10.1186/s12955-018-1021-9. PMID: 30231882Free PMC Article
Type 1 Diabetes Mellitus and Cognitive Impairments: A Systematic Review.
Li W, Huang E, Gao S
J Alzheimers Dis 2017;57(1):29-36. doi: 10.3233/JAD-161250. PMID: 28222533

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