Congenital Hyperinsulinism

Common Name(s)

Congenital Hyperinsulinism, Familial hyperinsulinism

Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Hyperinsulinism" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Congenital Hyperinsulinism International

To improve the lives of people living with congenital hyperinsulinism.

Last Updated: 19 Feb 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Hyperinsulinism" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Congenital Hyperinsulinism International

To improve the lives of people living with congenital hyperinsulinism.

http://www.congenitalhi.org

Last Updated: 19 Feb 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Hyperinsulinism" returned 75 free, full-text research articles on human participants. First 3 results:

Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism.
 

Author(s): Pradeep K Garg, Stephen J Lokitz, Lisa Truong, Burton Putegnat, Courtney Reynolds, Larry Rodriguez, Rachid Nazih, Jonathan Nedrelow, Miguel de la Guardia, John K Uffman, Sudha Garg, Paul S Thornton

Journal:

 

After injecting 25.6 ± 8.8 MBq (0.7 ± 0.2 mCi) of 18F-Fluoro-L-DOPA intravenously, three static PET scans were acquired at 20, 30, and 40 min post injection in 3-D mode on 10 patients (6 male, 4 female) with congenital hyperinsulinism. Regions of interest (ROIs) were drawn over ...

Last Updated: 31 Dec 1969

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Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
 

Author(s): Maria Salomon-Estebanez, Sarah E Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee

Journal:

 

Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear ...

Last Updated: 31 Dec 1969

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Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease.
 

Author(s): Bing Han, Melanie Newbould, Gauri Batra, Edmund Cheesman, Ross J Craigie, Zainab Mohamed, Lindsey Rigby, Raja Padidela, Mars Skae, Aleksandr Mironov, Tobias Starborg, Karl E Kadler, Karen E Cosgrove, Indraneel Banerjee, Mark J Dunne

Journal: Am. J. Clin. Pathol.. 2016 Jun;145(6):757-68.

 

To quantify islet cell nucleomegaly in controls and tissues obtained from patients with congenital hyperinsulinism in infancy (CHI) and to examine the association of nucleomegaly with proliferation.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Hyperinsulinism" returned 8 free, full-text review articles on human participants. First 3 results:

The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) - literature review.
 

Author(s): Adam M Kowalewski, Łukasz Szylberg, Anna Kasperska, Andrzej Marszałek

Journal: Pol J Pathol. ;68(2):97-101.

 

Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological examination is necessary for ...

Last Updated: 31 Dec 1969

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Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders.
 

Author(s): Charles A Stanley

Journal: J. Clin. Endocrinol. Metab.. 2016 Mar;101(3):815-26.

 

Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children. The risk of permanent brain injury in infants with HI continues to be as high as 25-50% due to delays in diagnosis and inadequate treatment. Congenital HI has been described since the birth of the ...

Last Updated: 31 Dec 1969

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Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers.
 

Author(s): Alena Welters, Christian Lerch, Sebastian Kummer, Jan Marquard, Burak Salgin, Ertan Mayatepek, Thomas Meissner

Journal:

 

Up to now, only limited data on long-term medical treatment in congenital hyperinsulinism (CHI) is available. Moreover, most of the drugs used in CHI are therefore not approved. We aimed to assemble more objective information on medical treatment in CHI with regard to type and duration, ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Fluorodopa F 18 in Congenital Hyperinsulinism
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 31 Aug 2017

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CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 13 Oct 2017

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Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 14 Oct 2017

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