Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome

Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome

BackgroundSome infants undergoing newborn screening (NBS) tests have inconclusive sweat chloride test (SCT) results that lead to the designation of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis/CFTR-related metabolic syndrome (CFSPID/CRMS). Some proportion of them transition to a CF diagno...

Full description

Bibliographic Details
Main Authors:	Mohini A. Gunnett, Elizabeth Baker, Cathy Mims, Staci T. Self, Hector H. Gutierrez, Jennifer S. Guimbellot
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-03-01
Series:	Frontiers in Pediatrics
Subjects:	CF cystic fibrosis CFTR (cystic fibrosis transmembrane conductance regulator) NBS (Newborn screening) SCT (sweat chloride testing) CFSPID/CRMS
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2023.1127659/full

Similar Items

A new category of patients in the diagnostic process of cystic fibrosis
by: Martyna Ciastkowska, et al.
Published: (2017-06-01)

Non‐pulmonary CFTR‐related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis
by: Stephanie L. Kuek, et al.
Published: (2023-01-01)

Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England
by: Pru Holder, et al.
Published: (2024-02-01)

A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening
by: Antonella Tosco, et al.
Published: (2023-01-01)

Comparison between Gibson–Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis
by: Daniela Dolce, et al.
Published: (2023-07-01)

Editorial: Functional Characterization and Pharmaceutical Targets in Common and Rare CFTR Dysfunctions
by: Elena K. Schneider-Futschik, et al.
Published: (2022-01-01)

The Psychological Impact on Parents of Children who Receive an Inconclusive Diagnosis for Cystic Fibrosis following Newborn Screening: A Systematic Mini-Review
by: Ioanna Loukou, et al.
Published: (2024-01-01)

'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
by: Knowles Michael R, et al.
Published: (2001-08-01)

Two years of newborn screening for cystic fibrosis in North Macedonia: First experience
by: Fustik S, et al.
Published: (2021-07-01)

Elexacaftor Mediates the Rescue of F508del CFTR Functional Expression Interacting with MSD2
by: Roberta Bongiorno, et al.
Published: (2023-08-01)

Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis
by: Chee Y. Ooi, et al.
Published: (2019-10-01)

Effectiveness and Safety of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Children With Cystic Fibrosis: A Meta-Analysis
by: Qiyu Li, et al.
Published: (2022-06-01)

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report
by: Tinatin Tkemaladze, et al.
Published: (2022-01-01)

Functional Consequences of CFTR Interactions in Cystic Fibrosis
by: Yashaswini Ramananda, et al.
Published: (2024-03-01)

CFTR Modulators: Impact on Fertility, Pregnancy, and Lactation in Women with Cystic Fibrosis
by: Jennifer L. Taylor-Cousar
Published: (2020-08-01)

Corneal Refractive Surgery Considerations in Patients with Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders
by: Moshirfar M, et al.
Published: (2022-11-01)

Exploring the Mechanism of Activation of CFTR by Curcuminoids: An Ensemble Docking Study
by: Emanuele Bellacchio
Published: (2023-12-01)

NBD2 Is Required for the Rescue of Mutant F508del CFTR by a Thiazole-Based Molecule: A Class II Corrector for the Multi-Drug Therapy of Cystic Fibrosis
by: Chiara Brandas, et al.
Published: (2021-09-01)

One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies
by: Marjolein M. Ensinck, et al.
Published: (2022-06-01)

Cystic Fibrosis - a very common genetic disease among the population - a general review
by: Julia Rutkowska, et al.
Published: (2023-06-01)

Identification of GLPG/ABBV-2737, a Novel Class of Corrector, Which Exerts Functional Synergy With Other CFTR Modulators
by: Gert de Wilde, et al.
Published: (2019-05-01)

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders
by: Alice Castaldo, et al.
Published: (2020-08-01)

Efficacy and Safety of Triple Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Patients With Cystic Fibrosis: A Meta-Analysis of Randomized Controlled Trials
by: Yizi Wang, et al.
Published: (2022-03-01)

Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present
by: Matteo Botti, et al.
Published: (2021-01-01)

A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants
by: Guido Veit, et al.
Published: (2021-07-01)

Two Siblings Homozygous for F508del-CFTR Have Varied Disease Phenotypes and Protein Biomarkers
by: Zhihong Zhang, et al.
Published: (2021-03-01)

International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis
by: Jane Chudleigh, et al.
Published: (2022-01-01)

Recovery of ΔF508-CFTR Function by Citrate
by: Beatrice Borkenhagen, et al.
Published: (2022-10-01)

Cystic Fibrosis and Oxidative Stress: The Role of CFTR
by: Evelina Moliteo, et al.
Published: (2022-08-01)

The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review
by: Despoina Koumpagioti, et al.
Published: (2023-03-01)

Efficacy and Safety of Elexacaftor-Tezacaftor-Ivacaftor in the Treatment of Cystic Fibrosis: A Systematic Review
by: Nikoletta Kapouni, et al.
Published: (2023-03-01)

Molecular Mechanism of Action of Trimethylangelicin Derivatives as CFTR Modulators
by: Onofrio Laselva, et al.
Published: (2018-07-01)

Mucins and CFTR: Their Close Relationship
by: Kenichi Okuda, et al.
Published: (2022-09-01)

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort
by: Elisa De Paolis, et al.
Published: (2023-08-01)

CFTR Mutations in Congenital Absence of Vas Deferens
by: Ramin Radpour, et al.
Published: (2007-03-01)

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Ubiquitylation as a Novel Pharmaceutical Target for Cystic Fibrosis
by: Ryosuke Fukuda, et al.
Published: (2020-04-01)

Cystic fibrosis mutation spectrum in north macedonia: A step toward personalized therapy
by: Terzic M, et al.
Published: (2019-08-01)

Elexacaftor-Tezacaftor-Ivacaftor in 2 cystic fibrosis adults homozygous for M1101K with end-stage lung disease
by: Winnie M. Leung, et al.
Published: (2023-01-01)

Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies
by: Fahad A. Almughem, et al.
Published: (2020-07-01)

Urinary Exosomes of Patients with Cystic Fibrosis Unravel CFTR-Related Renal Disease
by: Sebastien Gauthier, et al.
Published: (2020-09-01)