Objective: To study the clinical features and gene mutations of neonatal diabetes mellitus (NDM) in Chinese patients.
Methods: Patients with clinically diagnosed NDM were subjected to genetic screening by targeted gene capture of the genes associated with glucose metabolism, and followed up.
Results: Of the 23 cases of NDM studied, 16 (69.6%) were permanent neonatal diabetes mellitus (PNDM), 6 (26.1%) were transient neonatal diabetes mellitus (TNDM) and the remainder was unclassified and lost to follow-up. Symptoms at onset included fever, fainting, polydipsia and polyuria, glycosuria and seizure. All TNDM patients responded to insulin treatment. Three patients were successfully switched to glyburide; four cases were restarted on insulin due to glyburide resistance; one stopped oral glyburide because of serious gastrointestinal reactions and in other 8 cases glyburide was not tried until the last follow-up. The mean HbA1c of patients on insulin was 7.5% and in those switched to glyburide was 6.5%. Among 16 PNDM cases, 6 (38.5%) were found to have known KATP channel mutations, including one case of ABCC8 and five cases of KCNJ11 gene mutations. Novel non-KATP mutations including EIF2AK3, GLIS3 and SLC19A2 were found in three PNDM patients. One ABCC8/G296R mutation was found among six TNDM cases.
Conclusion: Atypical symptoms such as seizure may be seen initially in NDM cases. Insulin therapy is effective in both TNDM and PNDM. About one-third of PNDM patients in the present study had KATP mutations and glyburide therapy was effective in three patients.
Funding information: This work was supported by the Open Research Project of Shanghai Key Laboratory of Diabetes Mellitus(SHKLD-KF-1304).
01 - 03 Oct 2015
European Society for Paediatric Endocrinology