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Congenital Hyperinsulinism (CHI)

2019
The aim of this chapter is to highlight a rare endocrine condition (Congenital Hyperinsulinism, CHI), which can cause low blood glucose levels leading to permanent brain injury. Many Paediatric Nurses are unfamiliar with this condition. CHI is caused by unregulated insulin secretion from the pancreas and typically presents in the newborn period, but it
Kate Morgan   +3 more
openaire   +2 more sources

A Novel Mutation Associated with Congenital Hyperinsulinism

American Journal of Perinatology, 2007
Congenital hyperinsulinism is an important cause of persistent hypoglycemia in neonates. We present a term large-for-gestation neonate with congenital hyperinsulinism, who was found to have a novel sporadic missense mutation in the ABCC8 gene. The clinical phenotype of our case is described along with results of genetic testing.
Girija Natarajan   +2 more
openaire   +3 more sources

Diazoxide-Unresponsive Forms of Congenital Hyperinsulinism

2019
Congenital hyperinsulinism (HI) is defined as being “diazoxide-unresponsive” if the hypoglycemia persists despite maximum doses of diazoxide for at least five days . Inactivating mutations in the genes encoding the two subunits of the beta-cell ATP-sensitive potassium (KATP) channel are the most frequent cause of diazoxide-unresponsive hyperinsulinism.
Rayannavar, Arpana   +2 more
openaire   +3 more sources

Histopathology of the Pancreas in Congenital Hyperinsulinism

2019
The underlying genetic alterations in congenital hyperinsulinism (HI) are reflected in characteristic histopathologic changes in the pancreas of affected patients. The majority of cases with inactivating KATP mutations can be segregated into two morphologic forms, diffuse and focal HI, with corresponding alterations in islet cell nuclear size and ...
Tricia R. Bhatti, Eduardo Ruchelli
openaire   +2 more sources

799 Standardised practices in the management of congenital hyperinsulinism: a UK national collaborative consensus

British Society of Paediatric Endocrinology and Diabetes, 2023
G. Shaikh   +11 more
semanticscholar   +1 more source

Congenital Hyperinsulinism - Notes for the General Pediatrician.

Indian Pediatrics
M. S. Estebanez   +2 more
semanticscholar   +1 more source

Adjuvant Alpelisib Therapy for Congenital Hyperinsulinism.

New England Journal of Medicine
Hajar Dauleh   +3 more
semanticscholar   +1 more source

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