Rapid chloride and bicarbonate determination by capillary electrophoresis for confirmatory testing of cystic fibrosis infants with volume-limited sweat specimens

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dc.creatorStellena Mathiaparanam
dc.creatorAdriana Nori de Macedo
dc.creatorBiban Gill
dc.creatorKatherine Keenan
dc.creatorTanja Gonska
dc.creatorLinda Pedder
dc.creatorStephen Hill
dc.creatorPhilip Britz-Mckibbin
dc.date.accessioned2023-11-07T17:06:31Z
dc.date.accessioned2025-09-09T00:24:09Z
dc.date.available2023-11-07T17:06:31Z
dc.date.issued2022
dc.identifier.doihttps://doi.org/10.1016/j.jcf.2022.05.004
dc.identifier.issn1569-1993
dc.identifier.urihttps://hdl.handle.net/1843/60571
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofJournal of Cystic Fibrosis
dc.rightsAcesso Restrito
dc.subjectBicarbonato de sódio
dc.subjectEletroforese capilar
dc.subjectTitração complexométrica
dc.subjectGlândulas sudoríparas
dc.subjectFibrose cística
dc.subjectRecém-nascidos - Doenças
dc.subjectCloretos
dc.subject.otherBicarbonate
dc.subject.otherCapillary electrophoresis
dc.subject.otherChloride
dc.subject.otherCoulometric titrationt
dc.subject.otherConfirmatory testing
dc.subject.otherCystic fibrosis
dc.subject.otherNewborn screening
dc.subject.otherPilocarpine iontophoresis
dc.subject.otherSwea
dc.titleRapid chloride and bicarbonate determination by capillary electrophoresis for confirmatory testing of cystic fibrosis infants with volume-limited sweat specimens
dc.typeArtigo de periódico
local.citation.epage72
local.citation.issue1
local.citation.spage66
local.citation.volume22
local.description.resumoObjectives Cystic fibrosis (CF) is a debilitating genetic disorder that benefits from early detection. CF diagnosis relies on measuring elevated sweat chloride that is difficult in neonates with low sweat rates. We introduce a new method for sweat chloride determination from volume-limited specimens, and explore the potential utility of sweat bicarbonate in neonatal CF screening. Methods A rapid assay (< 5 min) was developed to analyze chloride and bicarbonate using capillary electrophoresis with indirect UV detection (CE-iUV). Pilocarpine-stimulated sweat samples from screen-positive CF infants were collected at two hospital sites, including confirmed CF (n = 12), CF screen-positive inconclusive diagnosis (n = 4), and unaffected non-CF cases (n = 37). All sweat chloride samples were analyzed by a coulometric titrator and CE-iUV, and the viability to measure acid-labile bicarbonate was also evaluated. Results Stability studies revealed that bicarbonate can be reliably assessed in sweat if acidification and heating were avoided. Method validation demonstrated that sweat chloride and bicarbonate were quantified with acceptable accuracy (recovery of 102%), precision (CV = 3.7%) and detection limits (∼ 0.1 mM). An inter-laboratory comparison confirmed a mean bias of 6.5% (n = 53) for sweat chloride determination by CE-iUV relative to a commercial chloridometer. However, sweat bicarbonate did not discriminate between CF and non-CF infants (AUC = 0.623, p = 0.215) unlike chloride (AUC = 1.00, p = 3.00 × 10−7). Conclusions CE-iUV offers a robust method for sweat chloride testing from presumptive CF infants that may reduce testing failure rates. However, sweat bicarbonate does not have clinical value in newborn CF diagnosis.
local.identifier.orcidhttps://orcid.org/0000-0001-8524-6314
local.identifier.orcidhttps://orcid.org/0000-0002-4125-3755
local.identifier.orcidhttps://orcid.org/0000-0001-9296-3223
local.identifier.orcidhttps://orcid.org/0000-0001-6786-4354
local.publisher.countryBrasil
local.publisher.departmentICX - DEPARTAMENTO DE QUÍMICA
local.publisher.initialsUFMG
local.url.externahttps://www.sciencedirect.com/science/article/pii/S1569199322001126

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