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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. Infants with KCNJ11 or ABCC8 genetic mutations may respond to oral sulfonylurea therapy. | Huang et al. BMC Pediatrics 2014 14 188 http www.biomedcentral.eom 1471-2431 14 188 BMC Pediatrics CASE REPORT Open Access Permanent neonatal diabetes mellitus in China Ke Huang1 Li Liang1 2 Jun-feng Fu1 and Guan-pin Dong1 Abstract Background 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. Infants with KCNJ11 or ABCC8 genetic mutations may respond to oral sulfonylurea therapy. Currently there are limited studies about the genetic analysis and long-term follow-up of PNDM. Case presentation We report four cases of PNDM. None of the infants or their parents had INS KCNJ11 or ABCC8 genetic mutations. One infant underwent continuous subcutaneous insulin infusion CSII and the other infants underwent multiple injections of insulin MII . In these infants PNDM persisted from 35 months to 60 months of follow-up. Three infants maintained fairly stable blood sugar levels and one infant had poor sugar control. Conclusions We suggest that all of the infants with PNDM should undergo genetic evaluation. For infants without KCNJ11 and ABCC8 genetic mutations oral sulfonylurea should not be considered as treatment. CSII is a useful method for overcoming the difficulties of diabetes and it may also improve the quality of life of both infants and their parents. Keywords Permanent neonatal diabetes mellitus Genetic analysis Therapy Background Permanent neonatal diabetes mellitus PNDM which refers to the onset of diabetes before the age of 6 months with persistence through life is a rare disorder with an incidence ranging from 1 210 000 to 1 260 000 1 2 . Together activating mutations in KCNJ11 and ABCC8 genes that encode the Kir6.2 andsulfonylurea receptor 1 SUR1 subunits respectively account for more than 40 of PNDM cases 3 . Infants with these genetic mutations may benefit from switching to oral sulfonylurea therapy. To date only few data have been published regarding PNDM
