Analysis of clinical and genetic features among 12 neonatal diabetes mellitus

Results The age at diagnosis was between 0.5 and 5 month, the median was 3 month. 7 cases (58.3%) were SGA. Infection occurred in 7 cases, 4 cases with convulsion and 8 cases with ketoacidosis. The mean HbA1c at diagnosis was 10.0% (7.4%~13.7%). Insulin treatment was started in all 12 patients, the initial dose was 1.0~1.2IU/kg/d, 6 cases were treated with glyburide after the acute phase, only one boy who diagnosed as DEND syndrome reached euglycemia. 2 cases stopped glyburide because of gastrointestinal adverse reaction. Among the 12 cases followed up, 7 had PNDM, 4 had TNDM, 1 case lost following, 2 cases died, one was the DEND syndrome patient died of DKA, the other died of hepatic and renal failure at the age of 1 year and 6 months. One had skeletal dysplasia and diagnosed as Wolcott-Rallison syndrome. The blood glucose of most patients was well controlled. KCNJ11c.175G>A (V59M) and KCNJ11c.601C>A (R201H) mutation were found in two patients.