{"title":"Outcomes of Sweat Conductivity Testing and Referral Patterns for Cystic Fibrosis: A 10-Year Retrospective Single-Center Study in Albania.","authors":"Hamide Shllaku-Sefa, Teuta Dedej-Kurti, Ndok Marku","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Materials and methods: </strong>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).</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"37 4","pages":"592-600"},"PeriodicalIF":0.0000,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13563527/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/8/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
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.