[HTML][HTML] Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated …

LI Butnariu, DA Bizim, G Păduraru, L Păduraru… - International Journal of …, 2024 - mdpi.com
Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most
common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia …

Diagnosis of ABCC8 Congenital Hyperinsulinism of Infancy in a 20-Year-Old Man Evaluated for Factitious Hypoglycemia

A Gutgold, DJ Gross, B Glaser… - The Journal of Clinical …, 2017 - academic.oup.com
Context: Hypoglycemia is a rare event in healthy adults, and the differential diagnosis
includes many diseases, some of which are rare and easily missed. Design, Setting …

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation

J Stanik, M Skopkova, K Brennerova, D Danis… - Diabetes Research and …, 2017 - Elsevier
Aim Congenital hyperinsulinism (CHI) and glycogen storage disease (glycogenosis) are
both causing hypoglycemia during infancy, but with different additional clinical features and …

[HTML][HTML] Intraoperative ultrasound: a tool to support tissue-sparing curative pancreatic resection in focal congenital hyperinsulinism

J Bendix, MG Laursen, MB Mortensen… - Frontiers in …, 2018 - frontiersin.org
Background: Focal congenital hyperinsulinism (CHI) may be cured by resection of the focal,
but often non-palpable, pancreatic lesion. The surgical challenge is to minimize removal of …

Molecular characterization and management of congenital hyperinsulinism: a tertiary centre experience

R Sharma, K Roy, AK Satapathy, A Kumar, PM Nanda… - Indian Pediatrics, 2022 - Springer
Background There is limited data from India regarding medical management of congenital
hyperinsulinism (CHI). Objective To study the molecular diagnosis, medical management …

Clinical and molecular spectrum of glutamate dehydrogenase gene defects in 26 Chinese congenital hyperinsulinemia patients

C Su, XJ Liang, WJ Li, D Wu, M Liu… - Journal of Diabetes …, 2018 - Wiley Online Library
Objective. To characterize the genotype and phenotype of Chinese patients with congenital
hyperinsulinism (CHI) caused by activating mutations in GLUD1, the gene that encodes …

Neonatal Hypoglycemia

W Sigal, DD De Leon - Principles of Neonatology, 2024 - Elsevier
Neonatal hypoglycemia is relatively common in high-risk neonates, and early identification
and management are key for preventing long-term neurologic sequelae. In neonates with …

Congenital hyperinsulinism due to mutations in HNF1A

D Yau, K Colclough, A Natarajan, R Parikh… - European Journal of …, 2020 - Elsevier
Congenital hyperinsulinism is a rare but significant cause of severe and persistent
hypoglycaemia in infancy. Although a biphasic phenotype of congenital hyperinsulinism in …

Congenital hyperinsulinism

K Sims - Neoreviews, 2021 - publications.aap.org
Hyperinsulinemic hypoglycemia (HH) is fairly common in neonates, particularly those born
to diabetic mothers and those who are either large or small for gestational age. Immediate …

Higher C-peptide levels and glucose requirements may identify neonates with transient hyperinsulinism hypoglycemia who will benefit from diazoxide treatment

AS Davidov, E Elkon-Tamir, A Haham, G Shefer… - European Journal of …, 2020 - Springer
The aim of the study was to characterize factors that may serve as clinical tools to identify
neonates with transient neonatal hyperinsulinism hypoglycemia (HH) who may benefit from …