RT Journal Article
SR Electronic
T1 Neonatal diabetes with a rare LRBA mutation
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e250243
DO 10.1136/bcr-2022-250243
VO 15
IS 11
A1 Arti Yadav
A1 Rakesh Kumar
A1 Amit Rawat
A1 Radha Venkatesan
YR 2022
UL http://casereports.bmj.com/content/15/11/e250243.abstract
AB Neonatal diabetes mellitus (NDM) is characterised by onset of persistent hyperglycaemia within the first 6 months of life. NDM is frequently caused by a mutation in a single gene affecting pancreatic beta cell function. We report an infant, born to a non-consanguineous couple, who presented with osmotic symptoms and diabetic ketoacidosis. The genetic analysis showed a mutation in LRBA (lipopolysaccharide-responsive and beige-like anchor protein) gene. We highlight the importance of considering genetic analysis in every infant with NDM, to understand the nature of genetic mutation, associated comorbidities, response to glibenclamide and future prognosis.