5 research outputs found

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

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    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

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

    Get PDF
    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

    Healthcare delivery for paediatric and adolescent diabetes in low resource settings: Type 1 diabetes clinics in Uganda

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    The management of type 1 diabetes (T1DM) includes setting up organised follow-up clinics. A programme for establishing such clinics in Uganda commenced in 2009. The clinics were established along the chronic care model and were integrated into the health structure of other chronic diseases. Web-based electronic medical records were utilised to establish a centralised registry. All children with diabetes below 18 years of age were encouraged to enrol into the programme by attending the nearest established T1DM clinic. At the commencement of the programme, there were 178 patients with T1DM receiving care in various health facilities but without organised follow-up T1DM clinics. These patients were subsequently enrolled into the programme and as of June 30, 2018, the programme had a total of 32 clinics with 1187 children; 3 with neonatal diabetes. Challenges encountered included difficulties in timely diagnosis, failure to provide adequate care in the remote rural areas and failure to achieve pre-defined glycated haemoglobin (HbA1c) goals. Despite these challenges, this observational study demonstrates that healthcare delivery for T1DM organised along the chronic care model and supported by web-based electronic medical records is achievable and provides care that is sustainable. Addressing the encountered challenges should result in improved outcomes for T1DM
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