Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease

• Published in: Annals of hepatology 2015-11, Vol.14 (6), p.933-936
• Main Authors: Praticò, Andrea D., M.D, Praticò, Elena R, Rotolo, Novella, Salafia, Stefania, Franzonello, Chiara, Leonardi, Salvatore
• Format: Article
• Language: English
• Subjects: Adolescent; CFTR; Cystic fibrosis; Cystic Fibrosis - diagnosis; Cystic Fibrosis - genetics; Cystic Fibrosis - therapy; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; DNA Mutational Analysis; F508del; Gastroenterology and Hepatology; Genetic Markers; Genetic Predisposition to Disease; Humans; IVS8 5T; Liver disease; Liver Diseases - diagnosis; Liver Diseases - genetics; Liver Diseases - therapy; M470V; Male; Mutation; Pedigree; Phenotype
• ISSN: 1665-2681
• DOI: 10.5604/16652681.1171787

AbstractToday the knowledge of genotype-phenotype correlation in cystic fibrosis is enriched by the growing discoveries of new mutations of the CFTR gene. Although the combination of two severe mutations usually leads to the classic disease (pulmonary and pancreatic insufficiency, sterility, nasal polyposis), the presence of a complex genotype characterized by severe and milder mutations or polymorphism can cause a hidden disease, which is often asymptomatic at early ages. We report on a case of a 15 years old boy, in whom the only clinical signs of CF were chronic hypertransaminasemia and hyperbilirubinemia, and in whom it was demonstrated the presence of the mutations F508del associated with TG11-9T-470M in one allele and TG12-5T-470V in the other allele. Although a clear genotype-phenotype correlation for liver disease is still missing for CF patients, it is possible to state that this isolated clinical presentation could represent an unusual phenotype of CF, related to a complex genotype characterized by a severe mutation and one (or more) polymorphism.