目的:囊性纤维化的诊断取决于汗液测试中的氯离子浓度(≥60mEq/mL-公认为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。鉴于这种情况,目的是验证唾液氯化物浓度和汗液氯化物浓度的相关性,在唾液钠浓度和汗液钠浓度之间,囊性纤维化患者和健康对照受试者,作为囊性纤维化诊断的工具。
方法:有160名受试者登记:57/160(35.70%)囊性纤维化患者和两个已知的CFTR突变和103/160(64.40%)健康对照受试者。通过ABL835Radiometer®设备分析唾液离子浓度,血汗氯化物浓度和血汗钠浓度,分别,通过使用Schales和Schales的汞计量程序和火焰光度法进行手动滴定。通过卡方检验进行统计分析,Mann-Whitney测试,和斯皮尔曼的相关性。α=0.05。
结果:囊性纤维化患者的汗液氯化物浓度值较高,汗液钠浓度,唾液氯化物浓度,和唾液钠浓度高于健康对照组(p值<0.001)。唾液氯化物浓度和汗液氯化物浓度之间的相关性显示Spearman\'sRho(相关系数)=0.475(95%CI=0.346至0.587)。此外,唾液钠浓度和汗液钠浓度之间的相关性显示Spearman\sRho=0.306(95%CI=0.158~0.440)。
结论:唾液氯化物浓度和唾液钠浓度可用于囊性纤维化诊断,主要是在难以达到正确的出汗量的情况下,和/或CFTR突变筛选是困难的,和/或用于汗液测试的参考方法无法实施或不容易被普通人群使用。
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.