Work

Congenital Hyperinsulinism: A Therapeutical Dilemma

Year: 2025

Type: article

Abstract: Congenital hyperinsulinism in newborns has a prevalence of 1:28000-50000. Syndromic and non-syndromic, as well as nonketotic and ketotic cases were described. Depending on the degree of extension, histologically focal, diffuse and atypical forms are found. The primary diagnostic criterion is detectable insulin and hypoglycemia in the blood. Early onset and late onset forms do exist. A high variability and complexity in patient phenotype and a significant burden of care in families is present in these children. Cure means a mutation repair of the genetic origin. The chromosomal region 11p15 plays a key role in the disease, especially the K+ ATP channel on region 11p15.1 is of upmost importance. The genetic origin is multifactorial with mutations in about 10 different genes, aggravating the chance to find a curative method for these children.

Source: Journal of Women s Health and Development

DOI: 10.26502/fjwhd.2644-288400135

Authors: Stefan Bittmann, Elisabeth Luchter, Elena Moschüring-Alieva

Language: English

Topic: Pancreatic function and diabetes

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4410835524

FWCI:

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Related to: 10