Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease
Document title: Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease
Journal: Annals of hepatology
Database: PERIÓDICA
System number: 000413473
ISSN: 1665-2681
Authors: 1
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1
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Institutions: 1Universita di Catania, Dipartimento di Medicina Clinica e Sperimentale, Catania, Sicilia. Italia
Year:
Season: Nov-Dic
Volumen: 14
Number: 6
Pages: 933-936
Country: México
Language: Inglés
Document type: Artículo
Approach: Analítico, descriptivo
English abstract 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
Keyword: Gastroenterología,
Genética,
Enfermedad hepática,
Fibrosis quística,
Mutaciones
Keyword: Medicine,
Gastroenterology,
Genetics,
Liver diseases,
Cystic fibrosis,
Mutations
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