Noczyńska Anna, Zubkiewicz-Kucharska Agnieszka, Salmonowicz Barbara, Małecki Maciej, Młynarski Wojciech
Katedra i Klinika Endokrynologii i Diabetologii Wsieku Rozwojowego Akademii Medycznej, Wroclaw.
Pediatr Endocrinol Diabetes Metab. 2010;16(1):50-4.
The aim of this paper is to present a three-year observation of four children with permanent neonatal diabetes caused by heterozygous activating mutations in both KCNJ11 gene for Kir6.2 and ABCC8 gene for SUR1 subunits (three patients after three years of clinical observation and one patient after two years of clinical observation, respectively). In three cases with Kir6.2 mutation, developmental delay was diagnosed. In all four patients the glucagon test revealed normal c-peptide secretion. During the treatment with sulfonylureas (SU), glycaemia remained within the normal range, HbA1c<7%, in our patients. In all children reduction a of SU doses was required.
本文旨在呈现对4例因Kir6.2的KCNJ11基因和SUR1亚基的ABCC8基因杂合激活突变导致永久性新生儿糖尿病患儿的三年观察结果（分别为3例患儿经过三年临床观察，1例患儿经过两年临床观察）。在3例Kir6.2突变病例中，诊断出发育迟缓。在所有4例患者中，胰高血糖素试验显示C肽分泌正常。在我们的患者中，使用磺脲类药物（SU）治疗期间，血糖维持在正常范围内，糖化血红蛋白（HbA1c）<7%。所有患儿均需要减少SU剂量。
