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Nesidioblastosis

MedGen UID:
45047
Concept ID:
C0027773
Disease or Syndrome
Synonym: Islet cell hyperplasia
SNOMED CT: Pancreatic endocrine cell hyperplasia (42681006); Islet cell hyperplasia (42681006); Nesidioblastosis (42681006)
 
HPO: HP:0034346
OMIM®: 256450; 601820

Definition

An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed. [from HPO]

Conditions with this feature

Hyperinsulinemic hypoglycemia, familial, 2
MedGen UID:
419173
Concept ID:
C2931833
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

Kowalewski AM, Szylberg Ł, Kasperska A, Marszałek A
Pol J Pathol 2017;68(2):97-101. doi: 10.5114/pjp.2017.69684. PMID: 29025242
Davi MV, Pia A, Guarnotta V, Pizza G, Colao A, Faggiano A; NIKE Group
J Endocrinol Invest 2017 Jan;40(1):9-20. Epub 2016 Sep 13 doi: 10.1007/s40618-016-0536-3. PMID: 27624297
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

Recent clinical studies

Etiology

Boss M, Bos D, Frielink C, Sandker G, Bronkhorst P, van Lith SAM, Brom M, Buitinga M, Gotthardt M
J Nucl Med 2020 Nov;61(11):1588-1593. Epub 2020 May 8 doi: 10.2967/jnumed.119.238998. PMID: 32385165Free PMC Article
Davi MV, Pia A, Guarnotta V, Pizza G, Colao A, Faggiano A; NIKE Group
J Endocrinol Invest 2017 Jan;40(1):9-20. Epub 2016 Sep 13 doi: 10.1007/s40618-016-0536-3. PMID: 27624297
Stanley CA
J Clin Endocrinol Metab 2016 Mar;101(3):815-26. Epub 2016 Feb 23 doi: 10.1210/jc.2015-3651. PMID: 26908106Free PMC Article
Ritz P, Vaurs C, Barigou M, Hanaire H
Diabetes Obes Metab 2016 Mar;18(3):217-23. Epub 2016 Jan 5 doi: 10.1111/dom.12592. PMID: 26508374
Mala T
Surg Obes Relat Dis 2014 Nov-Dec;10(6):1220-5. Epub 2014 Jan 22 doi: 10.1016/j.soard.2014.01.010. PMID: 25002326

Diagnosis

Kowalewski AM, Szylberg Ł, Kasperska A, Marszałek A
Pol J Pathol 2017;68(2):97-101. doi: 10.5114/pjp.2017.69684. PMID: 29025242
Davi MV, Pia A, Guarnotta V, Pizza G, Colao A, Faggiano A; NIKE Group
J Endocrinol Invest 2017 Jan;40(1):9-20. Epub 2016 Sep 13 doi: 10.1007/s40618-016-0536-3. PMID: 27624297
Rariy CM, Rometo D, Korytkowski M
Curr Diab Rep 2016 Feb;16(2):19. doi: 10.1007/s11892-015-0711-5. PMID: 26868861
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
Dravecka I, Lazurova I
Neoplasma 2014;61(3):252-6. doi: 10.4149/neo_2014_047. PMID: 24645840

Therapy

Boss M, Bos D, Frielink C, Sandker G, Bronkhorst P, van Lith SAM, Brom M, Buitinga M, Gotthardt M
J Nucl Med 2020 Nov;61(11):1588-1593. Epub 2020 May 8 doi: 10.2967/jnumed.119.238998. PMID: 32385165Free PMC Article
Dardano A, Daniele G, Lupi R, Napoli N, Campani D, Boggi U, Del Prato S, Miccoli R
Front Endocrinol (Lausanne) 2020;11:10. Epub 2020 Jan 24 doi: 10.3389/fendo.2020.00010. PMID: 32047477Free PMC Article
Rariy CM, Rometo D, Korytkowski M
Curr Diab Rep 2016 Feb;16(2):19. doi: 10.1007/s11892-015-0711-5. PMID: 26868861
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
Ritz P, Vaurs C, Barigou M, Hanaire H
Diabetes Obes Metab 2016 Mar;18(3):217-23. Epub 2016 Jan 5 doi: 10.1111/dom.12592. PMID: 26508374

Prognosis

Pattison DA, Hicks RJ
Endocr Relat Cancer 2017 Jun;24(6):R203-R221. Epub 2017 Apr 11 doi: 10.1530/ERC-17-0005. PMID: 28400403
Stanley CA
J Clin Endocrinol Metab 2016 Mar;101(3):815-26. Epub 2016 Feb 23 doi: 10.1210/jc.2015-3651. PMID: 26908106Free PMC Article
Mala T
Surg Obes Relat Dis 2014 Nov-Dec;10(6):1220-5. Epub 2014 Jan 22 doi: 10.1016/j.soard.2014.01.010. PMID: 25002326
Dravecka I, Lazurova I
Neoplasma 2014;61(3):252-6. doi: 10.4149/neo_2014_047. PMID: 24645840
Krampitz GW, Norton JA
Curr Probl Surg 2013 Nov;50(11):509-45. doi: 10.1067/j.cpsurg.2013.08.001. PMID: 24206780

Clinical prediction guides

Klöppel G, Anlauf M, Raffel A, Perren A, Knoefel WT
Hum Pathol 2008 Jan;39(1):3-8. doi: 10.1016/j.humpath.2007.09.010. PMID: 18070631
Kaczirek K, Niederle B
World J Surg 2004 Dec;28(12):1227-30. Epub 2004 Nov 4 doi: 10.1007/s00268-004-7598-7. PMID: 15517495
Sempoux C, Poggi F, Brunelle F, Saudubray JM, Fekete C, Rahier J
Diabete Metab 1995 Dec;21(6):402-7. PMID: 8593920
Seki S, Ikenoue T, Murakami N, Hokanishi H, Kikuura T, Tokunaga M, Akiyama H, Hayakawa K
Acta Paediatr Jpn 1990 Jun;32(3):308-10. doi: 10.1111/j.1442-200x.1990.tb00829.x. PMID: 2239304
Fong TL, Warner NE, Kumar D
Diabetes Care 1989 Feb;12(2):108-14. doi: 10.2337/diacare.12.2.108. PMID: 2649323

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