Neonatal Diabetes: the importance of genetic testing
Susan Zakariah1,&, Nana Ama Barnes2, Roberta Lamptey1,3, Sian Ellard4, Elisa De Franco4,
1Korle Bu Teaching Hospital, Accra, Ghana, 2University of Cape-Coast School of Medical Sciences, Cape-Coast, Ghana, 3University of Ghana, School of Public Health, Ghana, 4University of Exeter Medical School, UK
Susan Zakariah, Korle Bu Teaching Hospital, Accra, Ghana
we present 2 cases of neonatal diabetes. Mutations in ABCC8 and KCNJ11 genes encoding for the pancreatic KATP channel can lead to transient neonatal diabetes (TNDM) as well as permanent neonatal diabetes (PNDM). KATP channel mutations causing TNDM typically result in diabetes being diagnosed before 6 months of age. Majority of neonatal diabetes patients with KATP channel mutations can be managed with sulphonylureas.
sequence analysis of the ABCC8, KCNJ11, INS and EIF2AK3 genes.
case 1: a 9-day old Male who presented with jaundice for 3 days and fever
for a day. On presentation, baby was febrile, lethargic, with no primitive
reflexes. A diagnosis of bilirubin encephalopathy and sepsis was made. On
presentation, serum bilirubin was 902 micromil/dl and dropped to 70micromil/dl
of intensive phototherapy and IV rehydration. On day 3 of admission, infant
was noticed to be severely dehydrated although his diapers were soaked with
urine. Investigations showed: Random blood sugar 33.1, glucosuria 3+, ketonuria
2+, and enterobacter sepsis. He was managed with insulin infusions and IV
By 4th week, baby no longer required insulin, was tolerating full
feeds and temperature had settled. Blood sugars have remained within normal
range. Sequence analysis of the ABCC8, KCNJ11, INS and EIF2AK3 genes did
not identify a pathogenic mutation. Case 2: a 16 week old baby bought to
on account of severe weight loss despite good appetite. Random blood sugar
on presentation was 33.3mmol/l. Baby was was managed for DKA and discharged
on human premix insulin 30/70 after 2 months of hospital stay. Genetic testing
revealed a mutation in the KCNJ11 gene. Baby was switched to glibenclamide,
and blood sugars have remained stable.
a diagnosis of diabetes before 6 months of age warrants genetic testing to guide treatment decisions.