Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa.

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

Thyroid autoimmunity and function among Ugandan children and adolescents with type-1 diabetes mellitus

Introduction: Up to 30% of type-1 diabetes mellitus (T1DM) patients have co-existent thyroid   autoimmunity with up to 50% of them having associated thyroid dysfunction. Routine screening for  thyroid autoimmunity and dysfunction is recommended in all T1DM patients. However, this was not  currently practiced in Ugandan paediatric diabetes clinics. There was also paucity of data regarding   thyroid autoimmunity and dysfunction in African children and adolescents with diabetes mellitus. The objective of this study was to quantify the magnitude of thyroid autoimmunity and dysfunction in Ugandan children with TIDM.Methods: This was a cross sectional descriptive study to determine the prevalence of thyroid  autoantibodies and describe thyroid function among children and adolescents aged 1-19 years with  diabetes mellitus attending the paediatric diabetes clinic at Mulago National Referral Hospital, Kampala, Uganda. Following enrollment, we obtained details of clinical history and performed physical examination. Blood (plasma) was assayed to determine levels of antibodies to thyroid peroxidase (antiTPO), free  thyroxine (FT4) and thyrotropin (TSH). Results: The prevalence of thyroid autoimmunity was 7.3% (5/69). All antiTPO positive subjects were post pubertal, aged between 13-17 years with females comprising 3/5 of the antiTPO positive subjects. All study subjects were clinically euthyroid; however, 7.3% (5/69) of the study subjects had subclinical hypothyroidism. Conclusion: These data strengthen the argument for routine screening of all diabetic children and  adolescents for thyroid autoimmunity (particularly anti-TPO) as recommended by  international  guidelines. We also recommend evaluation of thyroid function in diabetic children and  adolescents to minimize the risk of undiagnosed thyroid dysfunction.Key words: Thyroid, autoimmunity, type 1 diabetes mellitus, childre

Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa.

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