Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short.
Paediatr Respir Rev
; 49: 28-33, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-37659865
ABSTRACT
Newborn screening (NBS) for cystic fibrosis (CF) has enabled earlier diagnosis and has improved nutritional and growth-related outcomes in children with CF. For those with a positive NBS for CF that do not meet the diagnostic criteria for CF, the clinical entity called CFTR-Related Metabolic Syndrome (CRMS) or CF Screen- Positive, Inconclusive Diagnosis (CFSPID) is used. Although most children with CRMS remain relatively asymptomatic, studies have shown that between 11% and 48% of these patients may eventually progress to a diagnosis of CF over time. Although the CF Foundation guidelines for CRMS management and European CF Society guidelines for CFSPID have some similarities, there are also some differences. Here, we review challenging case scenarios that highlight remaining gaps in CRMS guidelines, thus supporting the need to update and unify existing guidelines.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cystic Fibrosis
/
Metabolic Syndrome
Type of study:
Diagnostic_studies
/
Guideline
Limits:
Child
/
Humans
/
Newborn
Language:
En
Journal:
Paediatr Respir Rev
Journal subject:
PEDIATRIA
Year:
2024
Type:
Article
Affiliation country:
United States