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[法国囊性纤维化新生儿筛查汗液检测操作与解读指南]

[French guidelines for sweat test practice and interpretation for cystic fibrosis neonatal screening].

作者信息

Sermet-Gaudelus I, Munck A, Rota M, Roussey M, Feldmann D, Nguyen-Khoa T

机构信息

Inserm U 845, centre de ressources et de compétences de la mucoviscidose, hôpital Necker, université René Descartes, 156, rue de Vaugirard, 75730 Paris, France.

出版信息

Arch Pediatr. 2010 Sep;17(9):1349-58. doi: 10.1016/j.arcped.2010.06.021. Epub 2010 Aug 16.

DOI:10.1016/j.arcped.2010.06.021
PMID:20719482
Abstract

These guidelines aim to standardize the standard operating procedures for the sweat test in newborn cystic fibrosis (CF) screening. They have been implemented by the national Neonatal Screening working group of the French Federation for Cystic Fibrosis. It is recommended that the sweat test be performed when the infant weighs more than 3 kg and is at least 3 weeks of age. Sweat gland secretion is stimulated by transdermal administration of pilocarpine by iontophoresis. Sweat is preferentially collected in a Macroduct coil. Diagnosis of CF is based on the sweat chloride level. A sweat chloride level below 30 mmol/l very probably rules out CF; 60 mmol/l or higher supports the diagnosis of CF. Values between 30 and 60 mmol/l are considered abnormal.

摘要

这些指南旨在规范新生儿囊性纤维化(CF)筛查中汗液测试的标准操作程序。它们已由法国囊性纤维化联合会的国家新生儿筛查工作组实施。建议在婴儿体重超过3千克且至少3周龄时进行汗液测试。通过离子电渗疗法经皮给予毛果芸香碱刺激汗腺分泌。汗液优先收集在Macroduct线圈中。CF的诊断基于汗液氯化物水平。汗液氯化物水平低于30 mmol/l很可能排除CF;60 mmol/l或更高则支持CF的诊断。30至60 mmol/l之间的值被视为异常。

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1
[French guidelines for sweat test practice and interpretation for cystic fibrosis neonatal screening].[法国囊性纤维化新生儿筛查汗液检测操作与解读指南]
Arch Pediatr. 2010 Sep;17(9):1349-58. doi: 10.1016/j.arcped.2010.06.021. Epub 2010 Aug 16.
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The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening.CF-CIRC研究:一项法国合作研究,旨在评估新生儿筛查中囊性纤维化诊断的准确性。
BMC Pediatr. 2006 Oct 3;6:25. doi: 10.1186/1471-2431-6-25.
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Sweat conductivity and chloride titration for cystic fibrosis diagnosis in 3834 subjects.3834名受试者汗液电导率和氯化物滴定法用于囊性纤维化诊断
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Skin pretreatment with microneedles prior to pilocarpine iontophoresis increases sweat production.在毛果芸香碱离子导入法之前用微针进行皮肤预处理可增加汗液分泌。
Clin Physiol Funct Imaging. 2013 Nov;33(6):436-40. doi: 10.1111/cpf.12053. Epub 2013 May 13.
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Sweat gland bioelectrics differ in cystic fibrosis: a new concept for potential diagnosis and assessment of CFTR function in cystic fibrosis.汗腺生物电化学在囊性纤维化中存在差异:这是一个用于潜在诊断和评估囊性纤维化跨膜传导调节因子(CFTR)功能的新概念。
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Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.对新生儿筛查后可疑汗试验的婴幼儿进行鼻电位差测量。
Thorax. 2010 Jun;65(6):539-44. doi: 10.1136/thx.2009.123422.

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Front Pediatr. 2021 Nov 15;9:744705. doi: 10.3389/fped.2021.744705. eCollection 2021.
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Sweat Testing and Recent Advances.汗液检测及最新进展
Front Pediatr. 2021 May 4;9:649904. doi: 10.3389/fped.2021.649904. eCollection 2021.
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Sweat chloride quantification using capillary electrophoresis.使用毛细管电泳法定量汗液氯化物。
Pract Lab Med. 2018 Dec 7;13:e00114. doi: 10.1016/j.plabm.2018.e00114. eCollection 2019 Jan.
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Sweat test practice in pediatric pulmonology after introduction of cystic fibrosis newborn screening.囊性纤维化新生儿筛查引入后儿科肺病学中的汗液测试实践
Eur J Pediatr. 2015 Dec;174(12):1613-20. doi: 10.1007/s00431-015-2579-4. Epub 2015 Jun 16.
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Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.对法国囊性纤维化筛查新生儿队列的 CFTR 基因进行全面分析:对诊断、遗传咨询和突变特异性治疗的意义。
Genet Med. 2015 Feb;17(2):108-16. doi: 10.1038/gim.2014.113. Epub 2014 Aug 14.
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Sweat chloride as a biomarker of CFTR activity: proof of concept and ivacaftor clinical trial data.汗液氯化物作为囊性纤维化跨膜传导调节因子(CFTR)活性的生物标志物:概念验证及依伐卡托临床试验数据
J Cyst Fibros. 2014 Mar;13(2):139-47. doi: 10.1016/j.jcf.2013.09.007.