Paeds Cases · endocrinology-diabetes-and-growth
Monogenic diabetes and neonatal diabetes — structured clinical encounter
Structured encounter testing the approach to a six-week-old with persistent insulin-requiring hyperglycaemia found during a febrile illness: the recognition that diabetes under six months is almost never type 1, the acute stabilisation on insulin, the genetic testing pathway, the confirmation of a potassium-channel mutation, and the family conversation about switching to oral glibenclamide.
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You are the paediatric registrar. A six-week-old, small-for-gestational-age infant has persistent insulin-requiring hyperglycaemia found during a febrile illness, with mild developmental delay and hypotonia. Work through the recognition, the acute stabilisation, the genetic pathway, and the conversation with the parents. [4]
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- [1]Hattersley AT; Greeley SAW; Polak M; et al ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes, 2018.PMID 30225972
- [2]Gloyn AL; Pearson ER; Antcliff JF; et al Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med, 2004.PMID 15115830
- [3]Pearson ER; Flechtner I; Njølstad PR; et al Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med, 2006.PMID 16885550
- [4]Flanagan SE; Edghill EL; Gloyn AL; et al Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia, 2006.PMID 16609879
- [5]Edghill EL; Bingham C; Ellard S; Hattersley AT Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord, 2010.PMID 20922570