Author(s)

Xinyu Yu

Corresponding Author

Xinyu Yu

ABSTRACT

Neonatal diabetes mellitus (NDM) is a rare genetic disease, which happens in the 6 months of life. Some patients with NDM heal on their own, but the other patients will show the symptoms of NDM for their whole life. Based on the presence of the remission phase, NDM is divided into two categories: transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM). As a genetic disease, the mutations in different genes leads to different symptoms and the presence of the remission phase. The mutation in INS gene will cause PNDM, and the mutations on KCNJ11 and ABCC8 genes and the abnormalities of chromosome 6q24 will lead to TNDM. Previous articles have always given information about diseases rather scatteredly: they only studied only mutated gene in an article. Unlike them, this article will discuss and analyze these three types of mutation and both PNDM and TNDM in one article. It will give the pathologic mechanism of the diseases, and, for different mutated genes, three treatments are given in this article at the same time. The compilation shows more clearly about the different symptoms corresponding to the different mutated genes and the mechanism of the disease.

KEYWORDS

Diabetes, NDM, TNDM, PNDM, INS gene, KCNJ11 and ABCC8, 6q24, insulin, Sulfonylurea, CRISPR/CAS9