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唾液和汗液中氯离子和钠离子浓度作为诊断囊性纤维化的一种方法。

Chloride and sodium ion concentrations in saliva and sweat as a method to diagnose cystic fibrosis.

机构信息

Universidade Estadual de Campinas (Unicamp), Faculdade de Ciências Médicas, Departamento de Pediatria, Campinas, SP, Brasil.

Universidade Estadual de Campinas (Unicamp), Faculdade de Ciências Médicas, Departamento de Pediatria, Campinas, SP, Brasil; Universidade Estadual de Campinas (Unicamp), Faculdade de Ciências Médicas, Departamento de Genética Médica, Campinas, SP, Brasil.

出版信息

J Pediatr (Rio J). 2019 Jul-Aug;95(4):443-450. doi: 10.1016/j.jped.2018.04.005. Epub 2018 May 19.

Abstract

OBJECTIVE

Cystic fibrosis diagnosis is dependent on the chloride ion concentration in the sweat test (≥60mEq/mL - recognized as the gold standard indicator for cystic fibrosis diagnosis). Moreover, the salivary glands express the CFTR protein in the same manner as sweat glands. Given this context, the objective was to verify the correlation of saliva chloride concentration and sweat chloride concentration, and between saliva sodium concentration and sweat sodium concentration, in patients with cystic fibrosis and healthy control subjects, as a tool for cystic fibrosis diagnosis.

METHODS

There were 160 subjects enrolled: 57/160 (35.70%) patients with cystic fibrosis and two known CFTR mutations and 103/160 (64.40%) healthy controls subjects. Saliva ion concentration was analyzed by ABL 835 Radiometer equipment and, sweat chloride concentration and sweat sodium concentration, respectively, by manual titration using the mercurimetric procedure of Schales & Schales and flame photometry. Statistical analysis was performed by the chi-squared test, the Mann-Whitney test, and Spearman's correlation. Alpha=0.05.

RESULTS

Patients with cystic fibrosis showed higher values of sweat chloride concentration, sweat sodium concentration, saliva chloride concentration, and saliva sodium concentration than healthy controls subjects (p-value<0.001). The correlation between saliva chloride concentration and sweat chloride concentration showed a positive Spearman's Rho (correlation coefficient)=0.475 (95% CI=0.346 to 0.587). Also, the correlation between saliva sodium concentration and sweat sodium concentration showed a positive Spearman's Rho=0.306 (95% CI=0.158 to 0.440).

CONCLUSIONS

Saliva chloride concentration and saliva sodium concentration are candidates to be used in cystic fibrosis diagnosis, mainly in cases where it is difficult to achieve the correct sweat amount, and/or CFTR mutation screening is difficult, and/or reference methods for sweat test are unavailable to implement or are not easily accessible by the general population.

摘要

目的

囊性纤维化的诊断依赖于汗液测试中的氯离子浓度(≥60mEq/mL - 被认为是囊性纤维化诊断的金标准指标)。此外,唾液腺以与汗腺相同的方式表达 CFTR 蛋白。鉴于此,本研究旨在验证囊性纤维化患者和健康对照组的唾液氯离子浓度和汗液氯离子浓度之间,以及唾液钠离子浓度和汗液钠离子浓度之间的相关性,作为囊性纤维化诊断的一种工具。

方法

共纳入 160 名受试者:57/160(35.70%)患有囊性纤维化和两种已知 CFTR 突变的患者,以及 103/160(64.40%)健康对照组。通过 ABL 835 放射计设备分析唾液离子浓度,通过手动滴定法(Schales & Schales 汞量法和火焰光度法)分别分析汗液氯离子浓度和汗液钠离子浓度。采用卡方检验、Mann-Whitney 检验和 Spearman 相关分析进行统计学分析。α=0.05。

结果

囊性纤维化患者的汗液氯离子浓度、汗液钠离子浓度、唾液氯离子浓度和唾液钠离子浓度均高于健康对照组(p 值<0.001)。唾液氯离子浓度与汗液氯离子浓度之间呈正相关 Spearman's Rho(相关系数)=0.475(95%CI=0.346 至 0.587)。此外,唾液钠离子浓度与汗液钠离子浓度之间呈正相关 Spearman's Rho=0.306(95%CI=0.158 至 0.440)。

结论

唾液氯离子浓度和唾液钠离子浓度可用于囊性纤维化的诊断,主要适用于难以获得正确汗液量的情况,以及/或 CFTR 突变筛查困难的情况,以及/或无法实施汗液测试的参考方法,或者一般人群难以获得。

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