母女携带相同的 KCNJ11 突变，但对从胰岛素切换到磺脲类药物的反应不同。
Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea.
机构信息
Pediatric Clinic, University of Genoa, IRCCS G Gaslini Institute, Genoa, Italy.
出版信息
Diabetes Res Clin Pract. 2011 Nov;94(2):e50-2. doi: 10.1016/j.diabres.2011.07.039. Epub 2011 Aug 25.
Abstract
KCNJ11 gene mutations are related to permanent neonatal diabetes mellitus (PNDM). Glycemic stability minimizes the risk of complications. Sulfonylureas (SU) are the proven best therapeutic option. We report a 18-month follow-up of switching from insulin to SU in a mother and her daughter with PNDM due to KCNJ11 mutation.
摘要
KCNJ11 基因突变与永久性新生儿糖尿病（PNDM）有关。血糖稳定可将并发症风险降至最低。磺酰脲类药物（SU）是经过验证的最佳治疗选择。我们报告了一对因 KCNJ11 突变而患有 PNDM 的母女从胰岛素转换为 SU 的 18 个月随访结果。
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