Revista: | Annals of hepatology |
Base de datos: | PERIÓDICA |
Número de sistema: | 000413473 |
ISSN: | 1665-2681 |
Autors: | Pratico, Andrea D1 Rotolo, Novella1 Salafia, Stefania1 Franzonello, Chiara1 Leonardi, Salvatore1 |
Institucions: | 1Universita di Catania, Dipartimento di Medicina Clinica e Sperimentale, Catania, Sicilia. Italia |
Any: | 2015 |
Període: | Nov-Dic |
Volum: | 14 |
Número: | 6 |
Paginació: | 933-936 |
País: | México |
Idioma: | Inglés |
Tipo de documento: | Artículo |
Enfoque: | Analítico, descriptivo |
Resumen en inglés | Today 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 |
Disciplines | Medicina |
Paraules clau: | Gastroenterología, Genética, Enfermedad hepática, Fibrosis quística, Mutaciones |
Keyword: | Medicine, Gastroenterology, Genetics, Liver diseases, Cystic fibrosis, Mutations |
Text complet: | Texto completo (Ver PDF) |