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新生儿糖尿病 被引量：4

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摘要 第一次查房 主治医师查房,入院后第2天. 住院医师 汇报病史：患儿，男，3个月，因“发现血糖升高1个月”入院。患儿入院前1个月因“咳嗽2d，发热、少哭、气促1d”至当地医院住院治疗，入院时发现患儿呼吸深大，呼吸音粗，急查血气分析示代谢性酸中毒，尿常规示尿糖、尿酮体阳性，诊断为呼吸道感染、高血糖、酮症酸中毒。病程中患儿多次血钠、血糖偏高，给予患儿短效胰岛素针1U，每6小时皮下注射1次控制血糖，血糖控制不佳，一直波动于15—20mmol／L。
作者 李晓静 章淼滢 奚立 陆炜 罗飞宏
机构地区 复旦大学附属儿科医院内分泌遗传代谢科
出处 《中国小儿急救医学》 CAS 2014年第9期596-597,共2页 Chinese Pediatric Emergency Medicine
关键词 新生儿糖尿病 主治医师查房 代谢性酸中毒 血糖控制不佳 血糖升高 尿酮体阳性 呼吸道感染 酮症酸中毒
分类号 R722.1 [医药卫生—儿科]
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参考文献11

  • 1Ellard S,Bellanne-Chantelot C,Hattersley A.Best practice guidelines for the molecular genetic diagnosis of maturity-0nset diabetes of the young[J].Diabetologia,2008,51 (4):546-553.
  • 2Hattersley A,Bruining J,Shield J,et al.The diagnosis and management of monogenic diabetes in children and adolescents[J].Pediatr Diabetes,2009,10(Suppl 12):33-42.
  • 3International Diabetes Federation.International Society for Pediatric and Adolescent Diabetes.Global IDF/ISPAD Guideline for Diabetes in Childhood and Adolescence EB/OL (2011-11-16)[2012-09-12].http://www.idf.org/sites/default/files/Diabetes-in-Childhood-and-Adolescence-Guidelines.pdf.
  • 4Rubio-Cabezas O,Klupa T,Malecki MT,et al.Permanent neonatal diabetes mellitus-the importance of diabetes differential diagnosis in neonates and infants[J].Eur J Clin Invest,2011,41(3):323-333.
  • 5Greeley SA,Tucker SE,Worrell HI,et al.Update in neonatal diabetes[J].Curr Opin Endocrinol Diabetes Obes,2010,17 (1):13-19.
  • 6Wiedemann B,Schober E,Waldhoer T,et al.Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register[J].Pediatr Diabetes,2010,11 (1):18-23.
  • 7Gloyn AL,Pearson ER,Antcliff JF,et al.Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes[J].N Engl J Med,2004,350(18):1838-1849.
  • 8Girard CA,Shimomura K,Proks P,et al.Functional analysis of six Kit6.2 (KCNJl1) mutions causing neonatal diabetes[J].Pflugers Arch,2006,453 (3):323-332.
  • 9Rafiq M,Flanagan SE,Patch AM,et al.Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations[J].Diabetes Care,2008,31 (2):204-209.
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二级参考文献37

  • 1姚明珠,陆国强,陈豪,印学蕾,吴莉,戴芸佳,郭佳林,丁效薇,胡勇,徐秋玲.宫内发育迟缓早产儿胰岛素生长激素及皮质醇的变化和发病关系研究[J].中国实用儿科杂志,2007,22(1):22-24. 被引量：7
  • 2Shield JP, Gardner RJ, Wadsworth E J, el al. Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child Fetal Neonatal Ed, 1997,76 : F39-F42.
  • 3Wiedemann B, Schober E, Waldhoer T, et al. Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register..Pediatr Diabetes, 2010, 11:18-23.
  • 4Slingerland AS, Shields BM, Flanagan SE, et al. Referral rates tor diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260, 000 live births. Diabetologia, 2009,52 : 1683-1685.
  • 5Milner RD, Ferguson AW, Naidu SH. Aeliology of traIJsient neonatal diabetes. Areh Dis Child, 1971,46:724-726.
  • 6Gloyn AL, Cummings EA, Edghill EL, et al. Permanent neonatal diabetes due to patemal germline mosaic.ism fur an actbvating mutation of the KCNJll Gene encoding the Kit6.2 subunit of the beta-cell potassimn adenosine triphosphate channel. J Clin Endoerinol Metab, 2004, 89:3932-3935.
  • 7Edghill EL, Gloyn AL, Goriely A, eL al. Origin of de novo KCNJ11mutations and risk of neonatal diabetes for subsequent siblings. J Clin Endocrinol Metab, 2007,92:1773-1777.
  • 8Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes. N Engl J Med, 2004, 350 : 1838-1849.
  • 9Pearson ER, Flechtner I, Njolstad PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med, 2006, 355:467-477.
  • 10Babenko AP, Polak M, Cave H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med, 2006, 355 : 456-466.

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中国小儿急救医学
2014年 第9期

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