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

• Main Authors: Vito Terlizzi (Author), Cristina Fevola (Author), Alice Castaldo (Author), Selene Del Vespa (Author), Daniela Dolce (Author), Luca Scarallo (Author), Karina Kleinfelder (Author), Paola Melotti (Author), Claudio Sorio (Author), Giovanni Taccetti (Author), Paolo Lionetti (Author)
• Format: Book
• Published: BMC, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...