Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.

Thomas I HewatDaphne YauJoseph C S JeromeThomas W LaverJayne A L HoughtonBeverley M ShieldsSarah E FlanaganKashyap Amratlal Patel

Published in: European journal of endocrinology (2021)

Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation. These patients should be prioritised for genetic testing of KATP channel genes.

Keyphrases

gestational age
birth weight
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
weight gain
prognostic factors
preterm birth
peritoneal dialysis
genome wide
body mass index
dna methylation
patient reported outcomes