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Abnormality of the pancreatic islet cells

MedGen UID:
870594
Concept ID:
C4025043
Anatomical Abnormality
HPO: HP:0006476

Definition

An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. [from HPO]

Conditions with this feature

Hyperinsulinism-hyperammonemia syndrome
MedGen UID:
376153
Concept ID:
C1847555
Disease or Syndrome
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.\n\nThe severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.

Professional guidelines

PubMed

Jagomäe T, Gaur N, Seppa K, Reimets R, Pastak M, Plaas M, Kaasik A, Vasar E, Plaas M
Front Endocrinol (Lausanne) 2023;14:1234925. Epub 2023 Oct 13 doi: 10.3389/fendo.2023.1234925. PMID: 37900147Free PMC Article
Esser N, Utzschneider KM, Kahn SE
Diabetologia 2020 Oct;63(10):2007-2021. Epub 2020 Sep 7 doi: 10.1007/s00125-020-05245-x. PMID: 32894311
Kahn SE, Zraika S, Utzschneider KM, Hull RL
Diabetologia 2009 Jun;52(6):1003-12. Epub 2009 Mar 27 doi: 10.1007/s00125-009-1321-z. PMID: 19326096Free PMC Article

Recent clinical studies

Etiology

Schwartz SS, Epstein S, Corkey BE, Grant SF, Gavin JR 3rd, Aguilar RB
Diabetes Care 2016 Feb;39(2):179-86. doi: 10.2337/dc15-1585. PMID: 26798148Free PMC Article
DeFronzo RA, Ferrannini E, Groop L, Henry RR, Herman WH, Holst JJ, Hu FB, Kahn CR, Raz I, Shulman GI, Simonson DC, Testa MA, Weiss R
Nat Rev Dis Primers 2015 Jul 23;1:15019. doi: 10.1038/nrdp.2015.19. PMID: 27189025
Lim EL, Hollingsworth KG, Aribisala BS, Chen MJ, Mathers JC, Taylor R
Diabetologia 2011 Oct;54(10):2506-14. Epub 2011 Jun 9 doi: 10.1007/s00125-011-2204-7. PMID: 21656330Free PMC Article
Taplin CE, Barker JM
Autoimmunity 2008 Feb;41(1):11-8. doi: 10.1080/08916930701619169. PMID: 18176860
Kahn SE, Hull RL, Utzschneider KM
Nature 2006 Dec 14;444(7121):840-6. doi: 10.1038/nature05482. PMID: 17167471

Diagnosis

Antosik K, Borowiec M
Arch Immunol Ther Exp (Warsz) 2016 Dec;64(Suppl 1):157-160. Epub 2017 Jan 12 doi: 10.1007/s00005-016-0432-8. PMID: 28083605
Schwartz SS, Epstein S, Corkey BE, Grant SF, Gavin JR 3rd, Aguilar RB
Diabetes Care 2016 Feb;39(2):179-86. doi: 10.2337/dc15-1585. PMID: 26798148Free PMC Article
DeFronzo RA, Ferrannini E, Groop L, Henry RR, Herman WH, Holst JJ, Hu FB, Kahn CR, Raz I, Shulman GI, Simonson DC, Testa MA, Weiss R
Nat Rev Dis Primers 2015 Jul 23;1:15019. doi: 10.1038/nrdp.2015.19. PMID: 27189025
Dravecka I, Lazurova I
Neoplasma 2014;61(3):252-6. doi: 10.4149/neo_2014_047. PMID: 24645840
Lim EL, Hollingsworth KG, Aribisala BS, Chen MJ, Mathers JC, Taylor R
Diabetologia 2011 Oct;54(10):2506-14. Epub 2011 Jun 9 doi: 10.1007/s00125-011-2204-7. PMID: 21656330Free PMC Article

Therapy

Wang S, Du Y, Zhang B, Meng G, Liu Z, Liew SY, Liang R, Zhang Z, Cai X, Wu S, Gao W, Zhuang D, Zou J, Huang H, Wang M, Wang X, Wang X, Liang T, Liu T, Gu J, Liu N, Wei Y, Ding X, Pu Y, Zhan Y, Luo Y, Sun P, Xie S, Yang J, Weng Y, Zhou C, Wang Z, Wang S, Deng H, Shen Z
Cell 2024 Oct 31;187(22):6152-6164.e18. Epub 2024 Sep 25 doi: 10.1016/j.cell.2024.09.004. PMID: 39326417
Yang CH, Onda DA, Oakhill JS, Scott JW, Galic S, Loh K
Endocrinology 2021 Aug 1;162(8) doi: 10.1210/endocr/bqab070. PMID: 33824978
Schwartz SS, Epstein S, Corkey BE, Grant SF, Gavin JR 3rd, Aguilar RB
Diabetes Care 2016 Feb;39(2):179-86. doi: 10.2337/dc15-1585. PMID: 26798148Free PMC Article
DeFronzo RA, Ferrannini E, Groop L, Henry RR, Herman WH, Holst JJ, Hu FB, Kahn CR, Raz I, Shulman GI, Simonson DC, Testa MA, Weiss R
Nat Rev Dis Primers 2015 Jul 23;1:15019. doi: 10.1038/nrdp.2015.19. PMID: 27189025
Lim EL, Hollingsworth KG, Aribisala BS, Chen MJ, Mathers JC, Taylor R
Diabetologia 2011 Oct;54(10):2506-14. Epub 2011 Jun 9 doi: 10.1007/s00125-011-2204-7. PMID: 21656330Free PMC Article

Prognosis

Chen Y, Ohki R
Int J Mol Sci 2020 Jun 8;21(11) doi: 10.3390/ijms21114098. PMID: 32521808Free PMC Article
Sims EK, Evans-Molina C, Tersey SA, Eizirik DL, Mirmira RG
Diabetologia 2018 Nov;61(11):2259-2265. Epub 2018 Aug 15 doi: 10.1007/s00125-018-4712-1. PMID: 30112687Free PMC Article
Pugliese A
Discov Med 2014 Sep;18(98):141-50. PMID: 25227755
Dravecka I, Lazurova I
Neoplasma 2014;61(3):252-6. doi: 10.4149/neo_2014_047. PMID: 24645840
Taplin CE, Barker JM
Autoimmunity 2008 Feb;41(1):11-8. doi: 10.1080/08916930701619169. PMID: 18176860

Clinical prediction guides

Iida H, Kono T, Lee CC, Krishnan P, Arvin MC, Weaver SA, Jarvela TS, Branco RCS, McLaughlin MR, Bone RN, Tong X, Arvan P, Lindberg I, Evans-Molina C
Diabetologia 2023 Nov;66(11):2042-2061. Epub 2023 Aug 4 doi: 10.1007/s00125-023-05979-4. PMID: 37537395Free PMC Article
Sims EK, Evans-Molina C, Tersey SA, Eizirik DL, Mirmira RG
Diabetologia 2018 Nov;61(11):2259-2265. Epub 2018 Aug 15 doi: 10.1007/s00125-018-4712-1. PMID: 30112687Free PMC Article
Pugliese A
Discov Med 2014 Sep;18(98):141-50. PMID: 25227755
Poitout V, Amyot J, Semache M, Zarrouki B, Hagman D, Fontés G
Biochim Biophys Acta 2010 Mar;1801(3):289-98. Epub 2009 Aug 26 doi: 10.1016/j.bbalip.2009.08.006. PMID: 19715772Free PMC Article
Taplin CE, Barker JM
Autoimmunity 2008 Feb;41(1):11-8. doi: 10.1080/08916930701619169. PMID: 18176860

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