title: Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa.
abstract: Diabetes mellitus is a metabolic disease characterised by chronically high glucose levels. Genetic factors have been implicated in the aetiology following mutations in a single gene. An extremely rare form of diabetes mellitus is monogenic diabetes, a subset of which is permanent neonatal diabetes, and is usually suspected if a child is diagnosed with diabetes at less than 6 months of age. We present the first case reported from East Africa of a child diagnosed with permanent neonatal diabetes resulting from a mutation in the KCNJ11 gene encoding the Kir6.2 subunit. Despite the rarity of permanent neonatal diabetes, this diagnosis should be considered in infants with persistent hyperglycaemia requiring insulin therapy. Children with an ATP-sensitive potassium channel defect in the pancreatic beta cell have an overall good prognosis when treated with oral sulphonylurea therapy.
authors.affiliation: Department of Paediatrics, St. Francis Nsambya Hospital, P.O. Box 7146, Kampala, Uganda.
authors.forename: Catherine
authors.initials: C
authors.lastname: Nyangabyaki-Twesigye
authors.affiliation: Department of Paediatrics, International Hospital Kampala, P. O. Box 8177, Kampala, Uganda/Division of Paediatric Critical Care and Children's Heart Disease, School of Child and Adolescent Health, University of Cape Town, Rm 520, ICH Building, Red Cross War Memorial Children's Hospital, Klipfontein Road, Rondebosch, 7700, Cape Town, South Africa.
authors.forename: Michael Rugambwa
authors.initials: MR
authors.lastname: Muhame
authors.affiliation: Department of Internal Medicine, St Francis Nsambya Hospital, P. O. Box 7146, Kampala, Uganda.
authors.forename: Silver
authors.initials: S
authors.lastname: Bahendeka
mesh_terms: D000284:Administration, Oral; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D016883:Diabetic Ketoacidosis / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics*; D005905:Glyburide / Q000008:administration & dosage; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D016896:Treatment Outcome
chemical_list: D007004:Hypoglycemic Agents; D007328:Insulin; D005905:Glyburide