Faria Alethéa Guimarães, Marson Fernando Augusto Lima, Gomez Carla Cristina Souza, Servidoni Maria de Fátima, Ribeiro Antônio Fernando, Ribeiro José Dirceu
Department of Pediatrics, School of Medical Sciences, University of Campinas, Campinas, Brazil.
Laboratory of Pulmonary Physiology, Center for Pediatrics Investigation, School of Medical Sciences, University of Campinas, Campinas, Brazil.
Front Pediatr. 2017 Oct 26;5:222. doi: 10.3389/fped.2017.00222. eCollection 2017.
To conduct a descriptive analysis of the sweat test (ST), associating ST results with epidemiological data, (cystic fibrosis transmembrane conductance regulator) mutations and reasons to indicate the ST, as well as correlating sweat sodium and sweat chloride concentrations in subjects.
Retrospective survey and descriptive analysis of 5,721 ST at a university referral center.
The inclusion of the subjects was based on clinical data related with cystic fibrosis (CF) phenotype. The samples were grouped by (i) sweat chloride concentrations (mEq/L): <30: 3,249/5,277 (61.6%); ≥30 to <60: 1,326/5,277 (25.1%); ≥60: 702/5,277 (13.3%) and (ii) age: (Group A--GA) 0 to <6 months; (Group B--GB) ≥6 months to <18 years; (Group C--GC) ≥18 years. Digestive symptoms showed higher prevalence ratio for the CF diagnosis as well as association between younger age and higher values of sweat chloride, sweat sodium, and chloride/sodium ratio. The indication of ST due to respiratory symptoms was higher in GB and associated with greater age, lower values of sweat chloride, sweat sodium, and chloride/sodium ratio. There was higher prevalence of ST with sweat chloride levels <30 mEq/L in GB, ≥60 mEq/L in GC, and with borderline level in GB. There was positive correlation between sweat sodium and sweat chloride. Sweat chloride/sweat sodium and sweat sodium-sweat chloride indexes showed association with sex, reason for ST indication, and mutations. Sex alters some values presented in the ST. The number of ST/year performed before and after the newborn screening implementation was the same; however, we observed a higher number of borderlines values. A wide spectrum of mutation was found. Severe mutations and F508del/F508del genotype were associated with highest probability of ST chloride levels ≥60 mEq/L, and the absence of mutations identified was associated with borderline ST and respiratory symptoms.
ST data showed wide variability dependent on age, sex, reason for examination indication, mutations, and weight of the collected sweat sample. Sweat sodium concentration is directly correlated with sweat chloride levels and it could be used as a quality parameter.
对汗液试验（ST）进行描述性分析，将ST结果与流行病学数据、囊性纤维化跨膜传导调节因子（CFTR）突变以及进行ST的原因相关联，并对受试者的汗液钠和汗液氯浓度进行相关性分析。
在一所大学转诊中心对5721例ST进行回顾性调查和描述性分析。
纳入受试者基于与囊性纤维化（CF）表型相关的临床数据。样本按以下方式分组：（i）汗液氯浓度（mEq/L）：<30：3249/5277（61.6%）；≥30至<60：1326/5277（25.1%）；≥60：702/5277（13.3%）；以及（ii）年龄：（A组 - GA）0至<6个月；（B组 - GB）≥6个月至<18岁；（C组 - GC）≥18岁。消化系统症状在CF诊断中显示出更高的患病率，以及年龄较小与汗液氯、汗液钠和氯/钠比值较高之间的关联。因呼吸道症状进行ST检查在GB组中更为常见，且与年龄较大、汗液氯、汗液钠和氯/钠比值较低相关。GB组中汗液氯水平<30 mEq/L的ST患病率较高，GC组中≥60 mEq/L的ST患病率较高，GB组中临界水平的ST患病率也较高。汗液钠与汗液氯之间存在正相关。汗液氯/汗液钠和汗液钠 - 汗液氯指数与性别、ST检查原因和突变相关。性别会改变ST中呈现的一些数值。新生儿筛查实施前后每年进行的ST数量相同；然而，我们观察到临界值的数量有所增加。发现了广泛的CFTR突变谱。严重的CFTR突变和F508del/F508del基因型与ST氯水平≥60 mEq/L的最高概率相关，未检测到CFTR突变与临界ST和呼吸道症状相关。
ST数据显示出很大的变异性，取决于年龄、性别、检查指征原因、CFTR突变以及所采集汗液样本的重量。汗液钠浓度与汗液氯水平直接相关，可作为质量参数。
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