Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders

Background: Newborn screening (NBS) early-identifies cystic fibrosis (CF), but in CF-screening positive inconclusive diagnosis (CF-SPID) the results of immunoreactive trypsinogen (IRT), molecular analysis and sweat test (ST) are discordant. A percentage of CF-SPID evolves to CF, but data on long-ter...

Full description

Bibliographic Details
Main Authors: Alice Castaldo, Chiara Cimbalo, Raimondo J. Castaldo, Marcella D’Antonio, Manuela Scorza, Laura Salvadori, Angela Sepe, Valeria Raia, Antonella Tosco
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Diagnostics
Subjects:
cystic fibrosis
CF-SPID
CFTR-RD
newborn screening
genotype–phenotype correlation
Online Access:https://www.mdpi.com/2075-4418/10/8/570

Internet

https://www.mdpi.com/2075-4418/10/8/570

Similar Items