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以制定印度先天性甲状腺功能减退症筛查计划为重点的新生儿筛查

Neonatal Screening for Congenital Hypothyroidism with Focus on Developing an Indian Screening Programme.

作者信息

Jacob Jubbin Jagan

机构信息

Christian Medical College and Hospital, Ludhiana, Punjab, India.

出版信息

Eur Endocrinol. 2016 Aug;12(2):99-103. doi: 10.17925/EE.2016.12.02.99. Epub 2016 Aug 28.

DOI:10.17925/EE.2016.12.02.99
PMID:29632596
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5813450/
Abstract

Neonatal screening for congenital hypothyroidism, along with eradication of iodine deficiency in large parts of the world, has made it possible to prevent the development of permanent neurological impairment due to thyroid hormone deficiency in the developing brain. The first successful screening programme was demonstrated in Canada in 1973 and since then it has been standard of care in most developed societies. In India there is no national programme for neonatal screening, and screening is only done in selected larger hospitals on newborns whose parents fund it. This review summarises the current understanding of the various strategies for newborn screening that could potentially be employed in India with resource constraints. Once a case is detected, the further evaluation and determination of etiology is summarised. Treatment and long term follow-up with levothyroxine replacement is also described in detail as per current understanding.

摘要

新生儿先天性甲状腺功能减退症筛查,以及世界上大部分地区碘缺乏病的消除,使得预防发育中大脑因甲状腺激素缺乏而导致的永久性神经损伤成为可能。1973年在加拿大展示了首个成功的筛查项目,自那时起,它已成为大多数发达社会的标准医疗服务。在印度,没有全国性的新生儿筛查项目,只有在选定的较大医院,对父母自费的新生儿进行筛查。本综述总结了目前对在资源有限的印度可能采用的各种新生儿筛查策略的理解。一旦检测到病例,将总结进一步的评估和病因确定。还根据目前的认识详细描述了左甲状腺素替代治疗及长期随访情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b5/5813450/85d336071a97/euendo-12-99-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b5/5813450/55ef01df435f/euendo-12-99-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b5/5813450/f1705f212f1c/euendo-12-99-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b5/5813450/85d336071a97/euendo-12-99-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b5/5813450/55ef01df435f/euendo-12-99-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b5/5813450/f1705f212f1c/euendo-12-99-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5b5/5813450/85d336071a97/euendo-12-99-g003.jpg

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本文引用的文献

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European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.欧洲儿科内分泌学会关于先天性甲状腺功能减退症筛查、诊断和管理的共识指南。
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Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec.先天性甲状腺功能减退症的发病率真的在增加吗?魁北克的一项 20 年回顾性基于人群的研究。
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The increased incidence of congenital hypothyroidism: fact or fancy?先天性甲状腺功能减退症发病率的增加:事实还是想象?
Clin Endocrinol (Oxf). 2011 Dec;75(6):806-10. doi: 10.1111/j.1365-2265.2011.04128.x.
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Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study.新生儿筛查诊断的先天性甲状腺功能减退症年轻成年患者的微妙健康损害和社会教育成就:一项纵向基于人群的队列研究。
J Clin Endocrinol Metab. 2011 Jun;96(6):1771-82. doi: 10.1210/jc.2010-2315. Epub 2011 Mar 9.
7
Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?通过筛查先天性甲状腺功能减退症预防智力残疾:需要多大程度和什么水平?
Arch Dis Child. 2011 Apr;96(4):374-9. doi: 10.1136/adc.2010.190280. Epub 2011 Jan 17.
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Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience.新生儿先天性甲状腺功能减退症、先天性肾上腺皮质增生症和葡萄糖-6-磷酸脱氢酶缺乏症筛查的初步报告:昌迪加尔经验。
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