Some MODY Notes



Non-MODY causes of diabetes

Factors suggesting MODY

Some things about HNF-mutation MODY

Some things about HNF-1β mutation MODY

Some things about Kir 6.2 mutations

Tooth discolouration in PNDM patients switched to glibenclamide

Kumaraguru et al report tooth discolouration in 5/67 paediatric patients with KCNJ11 mutations causing permanent neonatal diabetes, and one case of enamel loss. This side effect has not been reported before; the authors speculate that theses cases were at least partly due to use of high-dose glibenclamide in young patients with deciduous white teeth.

Retinopathy changes during switch to sulphonylurea in PNDM

Klupa et al described 11 patients who were switched to SU, 9 of whom had no retinopathy at baseline. Only one developed worsening retinopathy, and she had longstanding poorly controlled diabetes, with a large HbA1c drop due to intensification of insulin prior to the SU switch.