Non pathological sweat test, pancreatic insufficiency and Cystic Fibrosis: an unusual case in a child with F508del-duplication of exons 1–3 CFTR genotype

Non pathological sweat test, pancreatic insufficiency and Cystic Fibrosis: an unusual case in a child with F508del-duplication of exons 1–3 CFTR genotype

Abstract While Cystic Fibrosis is characterized by a high phenotypic variability, a correlation is reported between the pancreatic status and the CFTR genotype. Here we report an unusual case of a child with Cystic Fibrosis (F508del-duplication of exons 1–3 genotype) diagnosed at 8 years old for pan...

Full description

Bibliographic Details
Main Authors: Vito Terlizzi, Cristina Fevola, Alice Castaldo, Selene Del Vespa, Daniela Dolce, Luca Scarallo, Karina Kleinfelder, Paola Melotti, Claudio Sorio, Giovanni Taccetti, Paolo Lionetti
Format: Article
Language:English
Published: BMC 2024-11-01
Series:BMC Pediatrics
Subjects:
Normal
Sweat chloride
Duplication
Diagnosis
CFTR
Genotype
Online Access:https://doi.org/10.1186/s12887-024-05154-7

Internet

https://doi.org/10.1186/s12887-024-05154-7

Similar Items