Clinical features of two patients with neonatal diabetes mellitus caused by KCNJ11 gene V59A/V59M mutations

VernacularTitle:KCNJ11基因V59A和V59M突变导致的新生儿糖尿病临床特点
Author: Xin ZHAO ; Wei GU ; Hui ZHANG ; Shining NI ; Xiaohong WU
Keywords: Neonatal diabetes mellitus; KCNJ11 gene; ATP-sensitive potassium channels; Clinical features; Glibenclamide
From: Chinese Journal of Endocrinology and Metabolism 2017;33(4):317-320
CountryChina
Language:Chinese
Abstract: Two patients with neonatal diabetes tested as V59A and V59M mutations were chosen for the study. Clinical data were analyzed retrospectively. The results showed that the patient with V59A mutation was characteristic of spasm and hyperglycemia at the age of three month, and treated with insulin for a long time as unresponsive to the glibenclamide at the beginning. Myasthenia and delay of development were observed during the follow-up. At the age of two years, glibenclamide was tried for the second time with a high dose and fairly-controlled glucose level. The patient with V59M mutation was diagnosed with diarrhea, hyperglycemia, and ketosis at the age of two month, and was responsive to glibenclamide at a relatively low dose with well-controlled glucose level. These results suggest that KCNJ11 V59M mutation would show some milder clinical manifestations and better glibenclamide efficacy as compared with V59A mutation.