Outcomes of Sweat Conductivity Testing and Referral Patterns for Cystic Fibrosis: A 10-Year Retrospective Single-Center Study in Albania.

Q2 Medicine
Hamide Shllaku-Sefa, Teuta Dedej-Kurti, Ndok Marku
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引用次数: 0

Abstract

Introduction: Cystic fibrosis (CF) is an autosomal recessive disorder. Sweat testing is a cornerstone of CF diagnosis and remains essential in settings where nationwide screening and registries are limited.

Materials and methods: We performed a retrospective single-center analysis of all patients referred for sweat testing in our laboratory between May 2015 and May 2025 (n=567). Sweat induction and collection were performed using the Macroduct® system, and analysis was conducted via the Sweat-Chek™ Analyzer (Model 3120, ELITechGroup). Statistical analysis was performed using Jamovi software (version 2.3.28).

Results: The cohort included 302 males (53%) and 265 females (47%), with a mean age of 36.3 ±49.2 months (Median: 14; IQR: 4-48). The primary indications for referral were respiratory manifestations (57%), followed by gastrointestinal symptoms (14.1%), failure to thrive (6.2%), and others (4.2%). Asymptomatic individuals with no symptoms recorded at referral (18.2%). Diagnostic outcomes revealed that 83.4% of participants had normal results, 11.3% were positive, and 3% were borderline. A "quantity not sufficient" (QNS) rate of 2.3% was observed.

Conclusions: In this single-center referral cohort, most sweat test results were normal, with an overall positive rate of 11.3% and low QNS rates that are benchmark favorably against published quality targets. Clear referral pathways and strengthened early-life evaluation (including expansion of screening access) may support earlier diagnosis and reduce disease burden.

汗导率测试结果和囊性纤维化转诊模式:阿尔巴尼亚10年回顾性单中心研究
囊性纤维化(CF)是一种常染色体隐性遗传病。汗液检测是CF诊断的基础,在全国筛查和登记有限的情况下仍然至关重要。材料和方法:我们对2015年5月至2025年5月在我们实验室进行汗液检测的所有患者进行了回顾性单中心分析(n=567)。使用Macroduct®系统进行汗液诱导和收集,通过Sweat- chek™分析仪(3120型,ELITechGroup)进行分析。采用Jamovi软件(版本为2.3.28)进行统计分析。结果:男性302例(53%),女性265例(47%),平均年龄36.3±49.2个月(中位数:14;IQR: 4-48)。转诊的主要指征是呼吸道症状(57%),其次是胃肠道症状(14.1%)、发育不良(6.2%)和其他(4.2%)。转诊时无症状记录的无症状个体(18.2%)。诊断结果显示83.4%的参与者结果正常,11.3%为阳性,3%为边缘性。“数量不足”(QNS)率为2.3%。结论:在这个单中心转诊队列中,大多数汗液测试结果正常,总体阳性率为11.3%,较低的QNS率与公布的质量目标相比是有利的基准。明确转诊途径和加强生命早期评估(包括扩大筛查机会)可能有助于早期诊断和减轻疾病负担。
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CiteScore
2.30
自引率
0.00%
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