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新生儿先天性甲状腺功能低下症筛查的评估 被引量:6

Evaluation of newborn screening for congenital hypothyroidism
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摘要 【目的】对新生儿先天性甲状腺功能低下症(congenital hypothyroidism,CH)筛查确诊的患儿进行评估,以了解上海地区CH筛查的效果。【方法】以25%的比例随机抽取经筛查确诊并坚持治疗随访的40例CH患儿,参考上海市儿童健康检查记录,对每个儿童进行体格发育及精神和动作发育的检查。【结果】40例患儿以年龄评价体重、以年龄评价身高及以身高评价体重与正常标准呈高度相关;不同年龄段的平均智商为101.36±11.57,无智力迟缓者。【结论】通过新生儿疾病筛查,早期诊断及治疗后,CH可以避免体格和智力的障碍;上海地区的CH筛查是有效果的;开展新生儿疾病筛查对提高我国人口素质有重要作用。 [Objective] Children with congenital hypothyroidism (CH) who confirmed by newborn screening were evaluated to understand the effectiveness of CH screening in Shanghai. [Methods] 40 children with CH were selected (25 % of the total children, who had been diagnosed as CH and treated regularly) and referred to the healthcare situation of the children in Shanghai region. The development situation, including weight, height were tested for each children; and also physiological and action development were evaluated. [Results] There was high relationship when it came to the evaluation of weight based on age, height based on age, height based on weight between research group and standards. The average intelligence quotient (IQ) was 101.36 ± 11.57 for children with different age, and no mentality retard was found. [Conclusions] Through newborn screening, the handicap of growth and IQ in children with CH can be avoided after early diagnostics and early treatment. Newborn screening in Shanghai is effective and plays an important role in decreasing congenital defects and enhancing population quality.
出处 《中国儿童保健杂志》 CAS 2008年第4期461-462,共2页 Chinese Journal of Child Health Care
关键词 新生儿疾病筛查 先天性甲状腺功能低下症 疗效评估 上海地区 newborn screening congenital hypothyroidism evaluation of treatment Shanghai region
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参考文献6

  • 1宋杰.小儿智能发育检查[M].上海:上海科学技术出版社,1987:1-52.
  • 2Adachi M,Asakura Y,Tachibana K. Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening[J]. Acta Paediatr, 2003, 92(7) :698-703.
  • 3朱娅梅.先天性甲状腺功能减退对儿童各系统发育的影响[J].国外医学(儿科学分册),2003,30(1):30-32. 被引量:9
  • 4Derksen LG,Verkerk PH. Neuropsychologic development in early treated congenital hypothyroidism: analysis of literature data[J]. Pediatr Res,1996,39(6):561-566.
  • 5Hrytsiuk I,Gilbert R, Logan S, et al. Starting dose of levothyroxine for the treatment of congenital hypothyroidism: a systematic review[J]. Arch Pediatr Adolesc Med, 2002,156 (12) :485-491.
  • 6Hsiao PH,Chiu YN, Tsai WY, et al. Intellectual outcomes of patients with congenital hypothyroidism not detected by neonatal screening[J]. J Formos Med Assoc, 1999,98 (4) : 512-515.

二级参考文献18

  • 1Elder DA, Karyal AF, D'Ercole AJ, et al. Effects of hypothyroidism on insulin-like growth factor-I expression during brain development in mice[J]. Neurosci Lett, 2000,293(2):99-102.
  • 2Bona G, Rapa A, Boccardo G, et al. IGF-I and IGFBP in congenital and acquired hypothyroidism after long-term replacement treatment[J]. Minerva Endocrinol, 1999,24(2):51 - 55.
  • 3Cassio A, Cacciari E, Balsamo A, et al. Low growth hormone-binding protein in infants with congenital hypothyroidism[J]. J Clin Endocrinol Metab, 1998,83(10):3643-3646.
  • 4Leung FC, Saggerson ED, Clark JB. Signal transduction processes in the developing brain: perturbations of G protein alpha-subunit abundances by perinatal hypothyroidism[J]. Dev Neurosci, 1996,18(3):153-161.
  • 5Poisik PA, Van Groenign M, Ponne NJ, et al. RC3/neurogranin structure and expression in the caprine brain in relation to congenital hypothyroidism[J]. Brain Res Mol Brain Res, 1995,29(1):119-130.
  • 6Macchia PE. Recent advances in understanding the molecular basis of primary congenital hypothyroidism[J]. Mol Med Today, 2000,6(1):36-42.
  • 7Pannain S, Weiss RE, Jackson CE, et al. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping[J]. J Clin Endocrinol Metab,1999,84(3):1067-1071.
  • 8LaFranchi S. Congenital hypothyroidism: etiologies, diagnosis, and management[J]. Thyroid, 1999,9(7):735-740.
  • 9Dezegher F, Pemasetti F, Vanhole C, et al. The prenatal role of thyroid hormone evidenced by fetomaternal Pit- 1 deficiency[J]. J Gin Endocrinol Metab, 1995,80(11):3127-3130.
  • 10Hemmings SJ, Storey KB. Brain gamma-glutamyltranspeptidase:characteristics, development and thyroid hormone dependency of the enzyme in isolated microvessels and neuronal/glial cell plasma membranes[J]. Mol Cell Biochem, 1999,202(1/2):119-130.

共引文献8

同被引文献44

  • 1刘丽华,张慧玉.先天性甲状腺功能减低症2例误诊分析[J].实用儿科临床杂志,2004,19(9):738-738. 被引量:5
  • 2阎玉芹.保证全民适宜的碘营养是碘缺乏病防治工作的长期任务[J].中国地方病学杂志,2005,24(3):237-238. 被引量:239
  • 3沈晓明,王卫平.儿科学[M].第七版.北京:人民卫生出版社,2008:267.
  • 4苏晞,刘海平,孙亚莲.19例早期治疗的甲状腺缺如儿智能发育状况结果分析[J].中国初级卫生保健,2007,21(8):86-87. 被引量:3
  • 5邵肖梅,叶鸿瑶,丘小汕.实用新生儿学[M].4版.北京:人民卫生出版社,2011:807-808.
  • 6卫生部.卫生部苯丙酮尿症和先天性甲状腺减低症诊治技术规范[s].北京:卫生部公报,2005,1(18).
  • 7曾畿生 王德芬.现代儿科内分泌学[M].上海:上海科学技术文献出版社,2001.128.
  • 8易著文.儿科学[M].6版.北京:人民卫生出版社,2006:489-491.
  • 9中华人民共和国卫生部.新生儿疾病筛查技术规范.2010版.2011.11.
  • 10Jones JH, Donaldson MD. Audit of initial management of congenital hypothyroidism in the United Kingdom-compari son of UK practice with European and UK guidelines[J]. J Pediatr Endocrinol Metab, 2009,22 : 1017- 1025.

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