Proceedings of The 3rd Africa Diabetes Congress, Yaounde, Cameroon (Yaounde, 2017)

Oral presentation

Neonatal Diabetes: the importance of genetic testing

Cite this: Pan African Medical Journal - Conference Proceedings. Sep 2017; 2(2): 32. doi:10.11604/pamj.cp.2017.2.32.66

Submitted: 06 Sep 17   Accepted: 06 Sep 17   Published: 06 Sep 17

Key words: Neonatal diabetes, genetic testing, glibenclamide

© Susan Zakariah et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Available online at: http://www.proceedings.panafrican-med-journal.com/conferences/2017/2/32/abstract

Corresponding author: Susan Zakariah, Korle Bu Teaching Hospital, Accra, Ghana (sulizak@yahoo.com)

This abstract is published as part of the proceedings of The 3rd Africa Diabetes Congress, Yaounde, Cameroon(CAMEROON, )

Untitled Document

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

 

 

&Corresponding author
Susan Zakariah, Korle Bu Teaching Hospital, Accra, Ghana

 

 

Abstract

Introduction: 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.

 

Methods: sequence analysis of the ABCC8, KCNJ11, INS and EIF2AK3 genes.

 

Results: 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 after 48hours 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 antibiotics. 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 the ER 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 home 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.

 

Conclusion: a diagnosis of diabetes before 6 months of age warrants genetic testing to guide treatment decisions.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

The 3rd Africa Diabetes Congress, Yaounde, Cameroon (Yaounde)

Country: CAMEROON

Dates: 19 Apr 17 - 22 Apr 17

Venue: Yaounde Congress Hall

Organizers: Africa Diabetes Congress Limited

Secretariat: secretariat@africadiabetescongress.com

Contact person: Prof. Jean Claude Mbanya (jcmbanya@yahoo.co.uk)