Treatment of Neonatal Monogenic Diabetes Not Caused by KCNJ11/ABCC8 (KATP Channel) Mutations
This protocol applies to neonatal-onset monogenic diabetes where KCNJ11/ABCC8 (KATP channel) mutations and SLC19A2 (thiamine-responsive) mutations have been excluded — an insulin-dependent form arising from causes such as INS or GCK mutations.
Clinical Scenario
Patients present with neonatal diabetes that is insulin-dependent by nature, with a genetic basis distinct from KATP-channel and SLC19A2 forms (examples include INS or GCK mutations). When pancreatic aplasia or hypoplasia is also present, additional exocrine pancreatic support is required alongside the primary treatment.
Treatment Approach (Partial Overview)
Management centres on subcutaneous insulin. The approach is further shaped by the patient's specific presentation — including pancreatic anatomy. The complete structured regimen specifies how treatment is applied and sequenced in this sub-population.
References
DOI: 10.1111/pedi.13426
- Apart from KATP-NDM and some persons with SLC19A2 mutations causing thiamine-responsive megaloblastic anemia (TRMA) syndrome, all other causes need to be treated with subcutaneous insulin.
- Children with pancreatic aplasia/hypoplasia will also require exocrine pancreatic supplements.
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