Diabetes Care. 2021 Jan;44(1):3542. doi: 10.2337/dc20-1520. PMID: 33184150.
The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurological manifestations (and the frequency of neurological manifestations is similar to NDM patients with KCJN11 mutations), C) the diagnosis of NDM should be made as early as possible so that sulphonylurea treatment can be started promptly, D) the dose of sulphonylurea should be regularly adjusted to maintain good glycaemic control.
Mutations (heterozygous and homozygous) in the ABCC8/KCNJ11 gene are a known cause of both transient and permanent NDM. In addition to NDM, patients may also show neurological manifestations, including developmental delay, epilepsy and mild neuropsychological impairments, which were thought to be more common in patients with KCNJ11 mutations (both KCNJ11 and ABCC8 are also expressed in the brain). About 90% of patients with ABCC8/KCNJ11 NDM can be successfully switched from insulin injections to oral sulphonylurea treatment. Long-term data on follow up with regard to the glycaemic control and the neurological manifestations has not been reported before specifically in patients with ABCC8 gene mutations. It is interesting that not all patients showed an improvement in the neurological manifestations and the reasons for this are still unclear.