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KATP-Associated Hyperinsulinism

MedGen UID:
1383949
•Concept ID:
C4330510
•
Disease or Syndrome

Definition

Hyperinsulinism caused by non-functional beta-cell ATP-sensitive potassium channels due to inactivating mutation(s) in either the ABCC8 or KCNJ11 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKATP-Associated Hyperinsulinism

Professional guidelines

PubMed

Visceral and ectopic fat, atherosclerosis, and cardiometabolic disease: a position statement.
Neeland IJ, Ross R, Després JP, Matsuzawa Y, Yamashita S, Shai I, Seidell J, Magni P, Santos RD, Arsenault B, Cuevas A, Hu FB, Griffin B, Zambon A, Barter P, Fruchart JC, Eckel RH; International Atherosclerosis Society; International Chair on Cardiometabolic Risk Working Group on Visceral Obesity
Lancet Diabetes Endocrinol 2019 Sep;7(9):715-725. Epub 2019 Jul 10 doi: 10.1016/S2213-8587(19)30084-1. PMID: 31301983
Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment.
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Demirbilek H, Hussain K
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):69-87. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S007. PMID: 29280746Free PMC Article

Recent clinical studies

Etiology

Congenital Hyperinsulinism.
Sims K
Neoreviews 2021 Apr;22(4):e230-e240. doi: 10.1542/neo.22-4-e230. PMID: 33795398
β Cell dysfunction during progression of metabolic syndrome to type 2 diabetes.
Hudish LI, Reusch JE, Sussel L
J Clin Invest 2019 Oct 1;129(10):4001-4008. doi: 10.1172/JCI129188. PMID: 31424428Free PMC Article
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Polycystic ovary syndrome (PCOS) and the accompanying disorders of glucose homeostasis among girls at the time of puberty.
Otto-Buczkowska E, Grzyb K, Jainta N
Pediatr Endocrinol Diabetes Metab 2018;24(1):40-44. doi: 10.18544/PEDM-24.01.0101. PMID: 30083660
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Demirbilek H, Hussain K
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):69-87. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S007. PMID: 29280746Free PMC Article

Diagnosis

Congenital hyperinsulinism.
Velde CD, Reigstad H, Tjora E, Guthe HJT, Hansen EV, Molven A, Njølstad PR
Tidsskr Nor Laegeforen 2023 Dec 12;143(18) Epub 2023 Dec 11 doi: 10.4045/tidsskr.23.0425. PMID: 38088279
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Giri D, Hawton K, Senniappan S
J Pediatr Endocrinol Metab 2022 Mar 28;35(3):279-296. Epub 2021 Sep 21 doi: 10.1515/jpem-2021-0369. PMID: 34547194
Polycystic ovary syndrome (PCOS) and the accompanying disorders of glucose homeostasis among girls at the time of puberty.
Otto-Buczkowska E, Grzyb K, Jainta N
Pediatr Endocrinol Diabetes Metab 2018;24(1):40-44. doi: 10.18544/PEDM-24.01.0101. PMID: 30083660
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Demirbilek H, Hussain K
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):69-87. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S007. PMID: 29280746Free PMC Article
Recognition and management of hyperinsulinemic hypoglycemia after bariatric surgery.
Malik S, Mitchell JE, Steffen K, Engel S, Wiisanen R, Garcia L, Malik SA
Obes Res Clin Pract 2016 Jan-Feb;10(1):1-14. Epub 2015 Oct 27 doi: 10.1016/j.orcp.2015.07.003. PMID: 26522879Free PMC Article

Therapy

Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Giri D, Hawton K, Senniappan S
J Pediatr Endocrinol Metab 2022 Mar 28;35(3):279-296. Epub 2021 Sep 21 doi: 10.1515/jpem-2021-0369. PMID: 34547194
Intermittent fasting versus continuous energy-restricted diet for patients with type 2 diabetes mellitus and metabolic syndrome for glycemic control: A systematic review and meta-analysis of randomized controlled trials.
Wang X, Li Q, Liu Y, Jiang H, Chen W
Diabetes Res Clin Pract 2021 Sep;179:109003. Epub 2021 Aug 12 doi: 10.1016/j.diabres.2021.109003. PMID: 34391831
Dietary polyphenols and type 2 diabetes: Human Study and Clinical Trial.
Cao H, Ou J, Chen L, Zhang Y, Szkudelski T, Delmas D, Daglia M, Xiao J
Crit Rev Food Sci Nutr 2019;59(20):3371-3379. Epub 2018 Nov 19 doi: 10.1080/10408398.2018.1492900. PMID: 29993262
Polycystic ovary syndrome (PCOS) and the accompanying disorders of glucose homeostasis among girls at the time of puberty.
Otto-Buczkowska E, Grzyb K, Jainta N
Pediatr Endocrinol Diabetes Metab 2018;24(1):40-44. doi: 10.18544/PEDM-24.01.0101. PMID: 30083660
Recognition and management of hyperinsulinemic hypoglycemia after bariatric surgery.
Malik S, Mitchell JE, Steffen K, Engel S, Wiisanen R, Garcia L, Malik SA
Obes Res Clin Pract 2016 Jan-Feb;10(1):1-14. Epub 2015 Oct 27 doi: 10.1016/j.orcp.2015.07.003. PMID: 26522879Free PMC Article

Prognosis

Comparison of triglyceride-glucose index and HOMA-IR for predicting prevalence and incidence of metabolic syndrome.
Son DH, Lee HS, Lee YJ, Lee JH, Han JH
Nutr Metab Cardiovasc Dis 2022 Mar;32(3):596-604. Epub 2021 Dec 7 doi: 10.1016/j.numecd.2021.11.017. PMID: 35090800
Long-acting insulin analogs and cancer.
Sciacca L, Vella V, Frittitta L, Tumminia A, Manzella L, Squatrito S, Belfiore A, Vigneri R
Nutr Metab Cardiovasc Dis 2018 May;28(5):436-443. Epub 2018 Feb 24 doi: 10.1016/j.numecd.2018.02.010. PMID: 29609864
The Global Epidemic of the Metabolic Syndrome.
Saklayen MG
Curr Hypertens Rep 2018 Feb 26;20(2):12. doi: 10.1007/s11906-018-0812-z. PMID: 29480368Free PMC Article
Nesidioblastosis in adults.
Dravecka I, Lazurova I
Neoplasma 2014;61(3):252-6. doi: 10.4149/neo_2014_047. PMID: 24645840
Persistent hyperinsulinaemic hypoglycaemia.
de Lonlay P, Touati G, Robert JJ, Saudubray JM
Semin Neonatol 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. PMID: 12069542

Clinical prediction guides

β Cell dysfunction during progression of metabolic syndrome to type 2 diabetes.
Hudish LI, Reusch JE, Sussel L
J Clin Invest 2019 Oct 1;129(10):4001-4008. doi: 10.1172/JCI129188. PMID: 31424428Free PMC Article
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Metabolic syndrome: pathophysiology, management, and modulation by natural compounds.
Rochlani Y, Pothineni NV, Kovelamudi S, Mehta JL
Ther Adv Cardiovasc Dis 2017 Aug;11(8):215-225. Epub 2017 Jun 22 doi: 10.1177/1753944717711379. PMID: 28639538Free PMC Article
Insulin resistance and hyperinsulinaemia in diabetic cardiomyopathy.
Jia G, DeMarco VG, Sowers JR
Nat Rev Endocrinol 2016 Mar;12(3):144-53. Epub 2015 Dec 18 doi: 10.1038/nrendo.2015.216. PMID: 26678809Free PMC Article
Hyperinsulinaemic hypoglycaemia.
Arya VB, Mohammed Z, Blankenstein O, De Lonlay P, Hussain K
Horm Metab Res 2014 Mar;46(3):157-70. Epub 2014 Feb 20 doi: 10.1055/s-0034-1367063. PMID: 24557504

Recent systematic reviews

Sedentary time and the risk of metabolic syndrome: A systematic review and dose-response meta-analysis.
Wu J, Zhang H, Yang L, Shao J, Chen D, Cui N, Tang L, Fu Y, Xue E, Lai C, Ye Z
Obes Rev 2022 Dec;23(12):e13510. Epub 2022 Oct 19 doi: 10.1111/obr.13510. PMID: 36261077
Shift work and the risk for metabolic syndrome among healthcare workers: A systematic review and meta-analysis.
Sooriyaarachchi P, Jayawardena R, Pavey T, King NA
Obes Rev 2022 Oct;23(10):e13489. Epub 2022 Jun 22 doi: 10.1111/obr.13489. PMID: 35734805Free PMC Article
A systematic literature review on obesity: Understanding the causes & consequences of obesity and reviewing various machine learning approaches used to predict obesity.
Safaei M, Sundararajan EA, Driss M, Boulila W, Shapi'i A
Comput Biol Med 2021 Sep;136:104754. Epub 2021 Aug 16 doi: 10.1016/j.compbiomed.2021.104754. PMID: 34426171
Metabolic syndrome and risk of cancer: a systematic review and meta-analysis.
Esposito K, Chiodini P, Colao A, Lenzi A, Giugliano D
Diabetes Care 2012 Nov;35(11):2402-11. doi: 10.2337/dc12-0336. PMID: 23093685Free PMC Article
The metabolic syndrome and cardiovascular risk a systematic review and meta-analysis.
Mottillo S, Filion KB, Genest J, Joseph L, Pilote L, Poirier P, Rinfret S, Schiffrin EL, Eisenberg MJ
J Am Coll Cardiol 2010 Sep 28;56(14):1113-32. doi: 10.1016/j.jacc.2010.05.034. PMID: 20863953

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