Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
复制标题
DOI：
10.2337/dc20-1520
复制
发表时间：
2021-01
期刊：
影响因子：
16.2
通讯作者：
Neonatal Diabetes International Collaborative Group
中科院分区：
文献类型：
--
作者：
Bowman P;Mathews F;Barbetti F;Shepherd MH;Sanchez J;Piccini B;Beltrand J;Letourneau-Freiberg LR;Polak M;Greeley SAW;Rawlins E;Babiker T;Thomas NJ;De Franco E;Ellard S;Flanagan SE;Hattersley AT;Neonatal Diabetes International Collaborative Group
ABCC 8突变导致新生儿糖尿病，可能是短暂的（TNDM）或不太常见的永久性（PNDM）;约90%的个体可以用口服磺脲类药物代替胰岛素治疗。以前的研究表明，ABCC 8-PNDM患者需要较低的磺酰脲类药物剂量，并且比KCNJ 11-PNDM患者具有更轻的神经功能特征。然而，这些研究是短期的，包括ABCC 8-NDM的永久和短暂形式的组合。我们的目的是评估磺脲类药物治疗ABCC 8-PNDM的长期血糖和神经功能结局。我们研究了在英国、意大利、法国或美国确诊的所有24例ABCC 8-PNDM患者，已知在2010年5月之前从胰岛素转换为磺脲类药物。使用非参数统计方法分析血糖控制、磺脲类药物剂量、不良反应（包括低血糖）和神经系统特征的数据。获得了21/24例患者的长期数据（中位随访时间为10.0（4.1-13.2）年）。在最近的随访中，18/21例患者仍在使用磺脲类药物，未使用胰岛素。磺酰脲类药物治疗后血糖控制改善（磺酰脲类药物治疗前与转移后1年HbA 1c分别为7.2%与5.7%，p=0.0004），长期保持极佳（1年与10年HbA 1c分别为5.7%与6.5%，p=0.04），n=16。使用了相对较高的剂量（1年vs 10年剂量0.37 vs 0.25 mg/kg/天格列本脲，p=0.50），未发生任何重度低血糖。13/21例患者报告了神经系统特征：7/13例患者在磺脲类药物转移后改善。最常见的特征是学习困难（52%），发育迟缓（48%）和ADHD（38%）。磺酰脲类药物治疗ABCC 8-PNDM可实现良好的长期血糖控制。明显的神经系统特征经常发生，并可能与磺脲类药物改善，支持早期，快速的基因检测，以指导适当的治疗和神经发育评估。
ABCC8 mutations cause neonatal diabetes that can be transient (TNDM) or less commonly permanent (PNDM); ~90% individuals can be treated with oral sulfonylureas instead of insulin. Previous studies suggested that people with ABCC8-PNDM require lower sulfonylurea doses and have milder neurological features than those with KCNJ11-PNDM. However, these studies were short-term and included combinations of permanent and transient forms of ABCC8-NDM. We aimed to assess the long-term glycemic and neurological outcomes in sulfonylurea-treated ABCC8-PNDM. We studied all 24 individuals with ABCC8-PNDM diagnosed in the UK, Italy, France or USA known to transfer from insulin to sulfonylureas before May 2010. Data on glycemic control, sulfonylurea dose, adverse effects including hypoglycemia, and neurological features were analysed using non-parametric statistical methods. Long-term data were obtained for 21/24 individuals (median follow-up 10.0 (4.1-13.2) years). 18/21 remained on sulfonylureas without insulin at most recent follow-up. Glycemic control improved on sulfonylureas (pre-sulfonylurea vs 1-year post-transfer HbA1c 7.2% vs 5.7%, p=0.0004) and remained excellent long-term (1-year vs. 10-year HbA1c 5.7% vs. 6.5%, p=0.04), n=16. Relatively high doses were used (1-year vs 10-year dose 0.37 vs 0.25mg/kg/day glyburide, p=0.50), without any severe hypoglycemia. Neurological features were reported in 13/21 individuals: these improved following sulfonylurea transfer in 7/13. The commonest features were learning difficulties (52%), developmental delay (48%), and ADHD (38%). Sulfonylurea treatment of ABCC8-PNDM results in excellent long-term glycemic control. Overt neurological features frequently occur and may improve with sulfonylureas, supporting early, rapid genetic testing to guide appropriate treatment and neurodevelopmental assessment.
登录
查看更多内容
早期，全面的基因组测试对新生儿糖尿病的临床护理的影响：一项国际队列研究。
DOI：
10.1016/s0140-6736(15)60098-8
发表时间：
2015-09-05
期刊：
Lancet (London, England)
影响因子：
--
作者：
De Franco E;Flanagan SE;Houghton JA;Lango Allen H;Mackay DJ;Temple IK;Ellard S;Hattersley AT
通讯作者：
Hattersley AT
影响因子：
3.4
作者：
Ly, Trang T.;Maahs, David M.;Jones, Timothy W.
通讯作者：
Jones, Timothy W.
DOI：
10.1016/s2213-8587(18)30106-2
发表时间：
2018-08
期刊：
The lancet. Diabetes & endocrinology
影响因子：
--
作者：
Bowman P;Sulen Å;Barbetti F;Beltrand J;Svalastoga P;Codner E;Tessmann EH;Juliusson PB;Skrivarhaug T;Pearson ER;Flanagan SE;Babiker T;Thomas NJ;Shepherd MH;Ellard S;Klimes I;Szopa M;Polak M;Iafusco D;Hattersley AT;Njølstad PR;Neonatal Diabetes International Collaborative Group
通讯作者：
Neonatal Diabetes International Collaborative Group
影响因子：
16.2
作者：
Svalastoga, Pernille;Sulen, Asta;Njolstad, Pal R.
通讯作者：
Njolstad, Pal R.
影响因子：
158.5
作者：
Pearson, Ewan R.;Flechtner, Isabelle;Hattersley, Andrew T.
通讯作者：
Hattersley, Andrew T.