| 葛 辛,戴向楠,华天书,庞世峰,吴志刚,卢艳辉.秦皇岛地区新生儿先天性甲状腺功能低下症的筛查及诊断分析[J].,2018,(4):758-762 |
| 秦皇岛地区新生儿先天性甲状腺功能低下症的筛查及诊断分析 |
| Screening and Diagnosis of Congenital Hypothyroidism in Neonates of Qinhuangdao Area |
| 投稿时间：2017-09-11 修订日期：2017-09-30 |
| DOI：10.13241/j.cnki.pmb.2018.04.035 |
| 中文关键词: 先天性甲状腺功能低下症 新生儿 筛查 黄疸 |
| 英文关键词: Congenital Hypothyroidism Newborns Screening Jaundice |
| 基金项目:秦皇岛市科技支撑计划项目（201602A209） |
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| 中文摘要: |
| 摘要 目的：分析秦皇岛地区新生儿先天性甲状腺功能低下症(congenital hypothyroidism，CH)患儿的筛查和诊断结果，为进一步提高新生儿筛查的管理及提高新生儿生命健康质量提供依据和参考。方法：回顾性分析秦皇岛地区2011年1月至2017年1月共184308例新生儿的CH筛查资料和诊断结果。统计确诊CH患儿的基本情况、体检情况、筛查检验情况、确诊检验情况及治疗随访情况。结果：共筛查184308例新生儿，其中92例为确诊CH患儿，发病率1/2003(0. 499 ‰)。新生儿CH临床非特异性表现复杂多样，多表现为病理性黄疸，占72.8 %，经治疗后黄疸消退时间17~48天；其次为前囟大、后囟未闭，占58.7 %；少哭、喑哑次之，占51.1 %；其他临床表现为消化道症状(腹胀、肠鸣减弱、便秘、脐疝)、特殊面容、粘液水肿等。CH患儿筛查检验促甲状腺激素(Thyroid Stimulating Hormone)，TSH重度升高者占52.2 %，中度升高者为26.1 %，轻度升高者为21.7 %。CH患儿绝大部分表现为TSH升高和甲状腺激素(thyroxine,T4 )降低。经口服左旋甲状腺素钠片治疗2周后，患儿症状改善，并根据三碘甲状腺氨酸(Triiodothyronine，T3)、T4、TSH检测结果调整剂量，恢复后每三个月复查一次。36~48个月随访，患儿身高、体重基本达到正常参照标准。结论：秦皇岛地区新生儿CH发病率较全国水平(1/3120)稍高，需加强CH患儿非特异性临床表现的健康教育工作，通过新生儿CH筛查做到早发现、早诊断、早治疗，提高新生儿的生命健康。 |
| 英文摘要: |
| ABSTRACT Objective: To analyze the results of screening and diagnosis of neonatal congenital hypothyroidism (CH) in Qinhuangdao, and provide references to improve the management of screening and the quality of life and health for newborns. Methods: The CH screening data and diagnosis results of a total of 184308 newborns were retrospectively analyzed from Jan 2016 to Jan 2017 in Qinhuangdao. The basic situation, physical examination, screening test, confirmed diagnosis and treatment follow-up situation of Diagnosed CH children were counted. Results: A total of 184308 newborns were screened, of which 92 were diagnosed as CH, and the incidence rate was 1/2003 (0.499 ‰). The clinical non-specific symptoms of newborn CH were complex and diverse, pathological jaundice was the main symptom, accounting for 72.8 %, after 17 to 48 days, jaundice subsided; followed by the symptoms of former fontanel, after fontanelle not closed, accounting for 58.7 %; the symptoms of less cry, dumb, accounting for 51.1 %; other clinical symptoms were gastrointestinal symptoms (abdominal distension, bowel weaken, constipation, umbilical hernia), special face, mucus edema, et al. CH newborns were significantly high in thyrotropin, thyroid stimulating hormone (TSH), 26.1 % in moderate and 21.7 % in mild. Most CH newborns showed elevated TSH and decreased thyroid hormone (triiodothyronine, T4). After oral administration of L-thyroxine sodium tablets for 2 weeks, the children's Symptoms were improved. According to Triiodothyronine (T3), T4, TSH test results, the dose should be adjusted. After recovery, the children reviewed every three months, 36 to 48 months follow-up, the height and weight of children basically reached the normal reference standard. Conclusion: The incidence of CH in neonates of Qinhuangdao area was slightly higher than that of the national level (1/3120), and it was necessary to strengthen the health education work of non-specific clinical manifestations of CH newborns. The neonatal CH screening could be used for early detection and early diagnosis to improve the quality of life and health of newborns. |
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