Introduction: Permanent neonatal diabetes mellitus (PNDM) is a rare disease which is defined as the onset of diabetes before the age of 6 months with persistence through life. Patients with KCNJ11 or ABCC8 gene mutations have the opportunity to switch to oral sulfonylurea therapy. There were limited studies about the genetic analysis and long-term follow-up of PNDM.
Case report: We report four cases of this kind of PNDM, including their genetic mutations, treatments and long-time follow-ups. All of the patients and their parents got gene analysis include INS, KCNJ11, or ABCC8 gene. All of the patients and their parents were not suffered from any genetic mutations of these three common genes. One of the children got continuous subcutaneous insulin infusion (CSII) and the others got multiple injections of insulin (MII). The PNDM patients had persisted after 3560 months of follow-up, three patients maintained almost stable blood sugar level, and one patient had poor sugar control.
Conclusion: We suggested all of PNDM patients should undergo genetic evaluation. For patients without KCNJ11 and ABCC8 gene mutation, oral sulfonylurea might not be considered. CSII is a useful tool for overcoming the difficulties of diabetes, and it is also advantageous to the life quality improvement.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology