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Focal KATP-Associated Hyperinsulinism

MedGen UID:
1377967
•Concept ID:
C4329998
•
Disease or Syndrome

Definition

KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal KATP-Associated Hyperinsulinism

Professional guidelines

PubMed

International Guidelines for the Diagnosis and Management of Hyperinsulinism.
De Leon DD, Arnoux JB, Banerjee I, Bergada I, Bhatti T, Conwell LS, Fu J, Flanagan SE, Gillis D, Meissner T, Mohnike K, Pasquini TLS, Shah P, Stanley CA, Vella A, Yorifuji T, Thornton PS
Horm Res Paediatr 2024;97(3):279-298. Epub 2023 Jul 14 doi: 10.1159/000531766. PMID: 37454648Free PMC Article
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 and management of insulinoma.
Okabayashi T, Shima Y, Sumiyoshi T, Kozuki A, Ito S, Ogawa Y, Kobayashi M, Hanazaki K
World J Gastroenterol 2013 Feb 14;19(6):829-37. doi: 10.3748/wjg.v19.i6.829. PMID: 23430217Free PMC Article

Recent clinical studies

Etiology

Inter-organ crosstalk during development and progression of type 2 diabetes mellitus.
Xourafa G, Korbmacher M, Roden M
Nat Rev Endocrinol 2024 Jan;20(1):27-49. Epub 2023 Oct 16 doi: 10.1038/s41574-023-00898-1. PMID: 37845351
DNA methylation GrimAge version 2.
Lu AT, Binder AM, Zhang J, Yan Q, Reiner AP, Cox SR, Corley J, Harris SE, Kuo PL, Moore AZ, Bandinelli S, Stewart JD, Wang C, Hamlat EJ, Epel ES, Schwartz JD, Whitsel EA, Correa A, Ferrucci L, Marioni RE, Horvath S
Aging (Albany NY) 2022 Dec 14;14(23):9484-9549. doi: 10.18632/aging.204434. PMID: 36516495Free 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
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
The Metabolic Phenotype in Obesity: Fat Mass, Body Fat Distribution, and Adipose Tissue Function.
Goossens GH
Obes Facts 2017;10(3):207-215. Epub 2017 Jun 1 doi: 10.1159/000471488. PMID: 28564650Free PMC Article

Diagnosis

International Guidelines for the Diagnosis and Management of Hyperinsulinism.
De Leon DD, Arnoux JB, Banerjee I, Bergada I, Bhatti T, Conwell LS, Fu J, Flanagan SE, Gillis D, Meissner T, Mohnike K, Pasquini TLS, Shah P, Stanley CA, Vella A, Yorifuji T, Thornton PS
Horm Res Paediatr 2024;97(3):279-298. Epub 2023 Jul 14 doi: 10.1159/000531766. PMID: 37454648Free PMC Article
Acanthosis Nigricans: An Updated Review.
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
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
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
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

Therapy

International Guidelines for the Diagnosis and Management of Hyperinsulinism.
De Leon DD, Arnoux JB, Banerjee I, Bergada I, Bhatti T, Conwell LS, Fu J, Flanagan SE, Gillis D, Meissner T, Mohnike K, Pasquini TLS, Shah P, Stanley CA, Vella A, Yorifuji T, Thornton PS
Horm Res Paediatr 2024;97(3):279-298. Epub 2023 Jul 14 doi: 10.1159/000531766. PMID: 37454648Free PMC Article
Acanthosis Nigricans: An Updated Review.
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
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
Circadian clocks and insulin resistance.
Stenvers DJ, Scheer FAJL, Schrauwen P, la Fleur SE, Kalsbeek A
Nat Rev Endocrinol 2019 Feb;15(2):75-89. doi: 10.1038/s41574-018-0122-1. PMID: 30531917
Insulin regulation of gluconeogenesis.
Hatting M, Tavares CDJ, Sharabi K, Rines AK, Puigserver P
Ann N Y Acad Sci 2018 Jan;1411(1):21-35. Epub 2017 Sep 3 doi: 10.1111/nyas.13435. PMID: 28868790Free PMC Article

Prognosis

Inter-organ crosstalk during development and progression of type 2 diabetes mellitus.
Xourafa G, Korbmacher M, Roden M
Nat Rev Endocrinol 2024 Jan;20(1):27-49. Epub 2023 Oct 16 doi: 10.1038/s41574-023-00898-1. PMID: 37845351
DNA methylation GrimAge version 2.
Lu AT, Binder AM, Zhang J, Yan Q, Reiner AP, Cox SR, Corley J, Harris SE, Kuo PL, Moore AZ, Bandinelli S, Stewart JD, Wang C, Hamlat EJ, Epel ES, Schwartz JD, Whitsel EA, Correa A, Ferrucci L, Marioni RE, Horvath S
Aging (Albany NY) 2022 Dec 14;14(23):9484-9549. doi: 10.18632/aging.204434. PMID: 36516495Free 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
Diagnosis and management of insulinoma.
Okabayashi T, Shima Y, Sumiyoshi T, Kozuki A, Ito S, Ogawa Y, Kobayashi M, Hanazaki K
World J Gastroenterol 2013 Feb 14;19(6):829-37. doi: 10.3748/wjg.v19.i6.829. PMID: 23430217Free PMC Article
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A
J Clin Endocrinol Metab 2013 Feb;98(2):E355-63. Epub 2012 Dec 28 doi: 10.1210/jc.2012-2169. PMID: 23275527Free PMC Article

Clinical prediction guides

Acanthosis Nigricans: An Updated Review.
Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
DNA methylation GrimAge version 2.
Lu AT, Binder AM, Zhang J, Yan Q, Reiner AP, Cox SR, Corley J, Harris SE, Kuo PL, Moore AZ, Bandinelli S, Stewart JD, Wang C, Hamlat EJ, Epel ES, Schwartz JD, Whitsel EA, Correa A, Ferrucci L, Marioni RE, Horvath S
Aging (Albany NY) 2022 Dec 14;14(23):9484-9549. doi: 10.18632/aging.204434. PMID: 36516495Free 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
Diagnosis and management of insulinoma.
Okabayashi T, Shima Y, Sumiyoshi T, Kozuki A, Ito S, Ogawa Y, Kobayashi M, Hanazaki K
World J Gastroenterol 2013 Feb 14;19(6):829-37. doi: 10.3748/wjg.v19.i6.829. PMID: 23430217Free PMC Article
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A
J Clin Endocrinol Metab 2013 Feb;98(2):E355-63. Epub 2012 Dec 28 doi: 10.1210/jc.2012-2169. PMID: 23275527Free PMC Article

Recent systematic reviews

Global incidence of adverse clinical events in non-alcoholic fatty liver disease: A systematic review and meta-analysis.
Le MH, Le DM, Baez TC, Dang H, Nguyen VH, Lee K, Stave CD, Ito T, Wu Y, Yeo YH, Ji F, Cheung R, Nguyen MH
Clin Mol Hepatol 2024 Apr;30(2):235-246. Epub 2024 Jan 26 doi: 10.3350/cmh.2023.0485. PMID: 38281814Free PMC Article
The effect of exercise training on adipose tissue insulin sensitivity: A systematic review and meta-analysis.
Engin B, Willis SA, Malaikah S, Sargeant JA, Yates T, Gray LJ, Aithal GP, Stensel DJ, King JA
Obes Rev 2022 Jul;23(7):e13445. Epub 2022 Mar 23 doi: 10.1111/obr.13445. PMID: 35319136
Identification of clinical phenotypes in knee osteoarthritis: a systematic review of the literature.
Dell'Isola A, Allan R, Smith SL, Marreiros SS, Steultjens M
BMC Musculoskelet Disord 2016 Oct 12;17(1):425. doi: 10.1186/s12891-016-1286-2. PMID: 27733199Free PMC Article
Epicardial fat: definition, measurements and systematic review of main outcomes.
Bertaso AG, Bertol D, Duncan BB, Foppa M
Arq Bras Cardiol 2013 Jul;101(1):e18-28. doi: 10.5935/abc.20130138. PMID: 23917514Free PMC Article
The value of radiologic interventions and (18)F-DOPA PET in diagnosing and localizing focal congenital hyperinsulinism: systematic review and meta-analysis.
Blomberg BA, Moghbel MC, Saboury B, Stanley CA, Alavi A
Mol Imaging Biol 2013 Feb;15(1):97-105. doi: 10.1007/s11307-012-0572-0. PMID: 22752652Free PMC Article

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