期刊文献+

以意识障碍或惊厥为首发症状的儿童低血糖症临床特点和误诊分析 被引量:5

Clinical features and causes of misdiagnosis of hypoglycemia first presented as disturbance of consciousness or seizures in children
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摘要 目的探讨以意识障碍或惊厥为首发症状的小儿低血糖症的临床特点,重点探讨其病因谱和误诊原因。方法对18例住院治疗的低血糖患儿的临床资料进行分析。结果婴儿期发病最常见(10例,55.6%)。病因明确者10例:酮症性低血糖5例、胰岛β细胞增生1例、胰岛β细胞瘤1例、糖原累积症Ⅰ型2例、生长激素缺乏1例;未明确8例,其中6例高度怀疑遗传代谢病。误诊疾病主要为癫痫(10例,55.6%)。结论此病发病年龄以婴幼儿为主,病因以酮症性低血糖、高胰岛素血症及糖原累积症Ⅰ型相对常见。对于儿童不明原因的惊厥发作或意识障碍,应重视低血糖的可能。 Objective The present study was to summarize the clinical findings and to explore the causes of misdiag-nosis of hypoglycemia with onset symptoms of consciousness disturbances or seizures in children. Method Eighteen children of hypoglycemia with onset symptom of seizures or disturbance of consciousness were collected at the De-partment of Pediatrics, Peking University First Hospital. The clarified etiology, clinical features and reasons of misdi-agnosis were analyzed. Result Age at onset:infants younger than 1 year of age were most common in this group ( 10 cases,SS. 6% ). Etiology:clear and definite in 10 cases, with ketotic hypoglycemia in 5, islet 13-cell hyperplasia in 1 ,islet β-cell tumor in 1 ,glycogen storage disease type I in 2, and growth hormone deficiency in 1 ;unclear in 8 ca-ses, with 6 of whom inborn errors of metabolism were highly suspected. Misdiagnosis : most patients ( 10 cases, 55.6% ) were misdiagnosed as epilepsy. Conclusion Hypoglycemia in this group mainly occurred in infancy. Ketotic hypoglycemia,hyperinsulinism, and glycogen storage disease typeIare relatively common. Hypoglycemia should be a- mong, the list of differential differential diagnosis in children with seizures or consciousness disturbances of undetermined origin.
出处 《中国医刊》 CAS 2013年第8期22-24,共3页 Chinese Journal of Medicine
基金 高等学校博士学科点专项科研基金(20090001110075) 国家科技支撑计划项目基金(2012BAI03B02)
关键词 低血糖症 惊厥 意识障碍 癫痫 儿童 Hypoglycemia Seizures Disturbance of consciousness Epilepsy Children
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参考文献9

  • 1胡亚美 江载芳.诸福棠实用儿科学[M]第7版[M].北京:人民卫生出版社,2002.1514.
  • 2Faustino EV,Hirshberg EL,Bogue CW.Hypoglycemia in critically ill children[J].J Diabetes Sci Technol,2012,6(1):48-57.
  • 3Heslegrave AJ,Hussain K.Novel insights into fatty acid oxidation,amino acid metabolism,and insulin secretion from studying patients with loss of function mutations in 3 hydroxyacyl CoA dehydrogenase[J].J Clin Endocrinol Metab,2013,98(2):496-501.
  • 4Magoulas PL,El Hattab AW.Systemic primary carnitine deficiency:an overview of clinical manifestations,diagnosis,and management[J].Orphanet J Rare Dis,2012,7:68.
  • 5杨艳玲,秦炯,吴希如.猝死与遗传代谢病[J].中国医刊,2006,41(3):15-18. 被引量:9
  • 6Suh SM,Hamby AM,Swanson RA.Hypoglycemia brain energetics and hypoglycemic neuronal death[J].Glia,2007,55(12):1280-1286.
  • 7Shirayama H,Ohshiro Y,Kinjo Y,et al.Acute brain injury in hypoglycaemia induced hemiplegia[J].Diabet Med,2004,21(6):623-624.
  • 8Lu F,Selak M,O'Connor J,et al.Oxidative damage to mitochondrial DNA and activity of mitochondrial enzymes in chronic active lesions of multiple sclerosis[J].J Neurol Sci,2000,177(2):95-103.
  • 9Lang TF.Update on investigating hypoglycaemia in childhood[J].Ann Clin Biochem,2011,48(Pt 3):200-211.

二级参考文献25

  • 1罗小平.有机酸代谢障碍[A].左启华.小儿神经系统疾病[M](第2版)[C].北京:人民卫生出版社,2002.484-487.
  • 2Munnich A,Rtig A,Cormier-Daire V,et al.Clinical presentation of respiratory chain deficiency[A].In:Scriver CR,Sly WS,Childs B,eds.The metabolic & molecular bases of inherited disease[M].8th ed.New York:McGraw-Hill,2001.2261-2274.
  • 3Nyhan WL,Ozant PT.Familiar hypercholesterolemia[A].In:Atlas of metabolic diseases[M].Spain:Chapman & Hall Medical,1998.502-509.
  • 4Nyhan WL,Ozant PT.Hyperammonemia and disorders of urea cycle defects[A].In:Atlas of metabolic diseases[M].Spain:Chapman & Hall Medical,1998.167-208.
  • 5Nyhan WL,Ozant PT.Homocystinuria[A].In:Atlas of metabolic diseases[M].Spain:Chapman & Hall Medical,1998.167-208.
  • 6Burchell A,Bell JE,Busuttil A,et al.Hepatic microsomal glucose-6-phosphatase system and sudden infant death syndrome[J].Lancet,1989,2(8658):291-294.
  • 7Saudubray JM,Baulny HO,Charpentier C.Clinical approach to inherited metabolic diseases[A].In:Fernandes J,Saudubray JM,Berghe G,Inborn Metabolic diseases[M].3th ed,Germany:Springer-Verlag,2000.3-41.
  • 8顾学范.串联质谱技术在新生儿疾病筛查中的应用[A].见:顾学范.新生儿疾病筛查[M].上海:上海科学技术文献出版社,2003.26-36.
  • 9Fernandes J,Saudubray JM,Huber J.Diagnostic procedure:Function test and postmortem protocol[A].In:Fernandes J,Saudubray JM,Berghe G,Inborn Metabolic diseases[M].3th ed.Germany:Springer-Verlag,2000.43-51.
  • 10Rezvani I,Rosenblatt DS,Metabolic Diseases[A] In:Behrman RE,Kliegman RM,Jenson HB.Nelson textbook of pediatrics[M].16th ed.Philadelphia:W B Saunders Company,2000.343-450.

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