| Revue: | Annals of hepatology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000407214 |
| ISSN: | 1665-2681 |
| Autores: | Vitale, Giovanni1 Pirillo, Martina1 Mantovani, Vilma2 Marasco, Elena2 Aquilano, Adelia2 Gamal, Nesrine1 Francalanci, Paola3 Conti, Fabio1 Andreone, Pietro1 |
| Instituciones: | 1Universita di Bologna, Dipartimento di Scienze Mediche e Chirurgiche, Bolonia, Emilia Romaña. Italia 2Universita di Bologna, Centro di Ricerca Biomedica Applicata, Bolonia, Emilia Romaña. Italia 3Universita di Roma, Ospedale Pediatrico Bambino Gesu, Roma, Lazio. Italia |
| Año: | 2016 |
| Periodo: | Sep-Oct |
| Volumen: | 15 |
| Número: | 5 |
| Paginación: | 795-800 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ATPdependent canalicular bile salt export pump (BSEP). Benign intrahepatic cholestasis (BRIC) identifies a group of diseases involving the same genes and characterized by intermittent attacks of cholestasis with no progression to liver cirrhosis. Diagnosis with standard sequencing techniques is expensive and available only at a few tertiary centers. We report the application of next generation sequencing (NGS) in the diagnosis of the familial intrahepatic cholestasis with a parallel sequencing of three causative genes. We identified the molecular defects in ABCB11 gene in two different probands who developed a severe cholestatic disease of unknown origin. In the first patient a compound heterozygosity for the novel frameshift mutation p.Ser1100GlnfsX38 and the missense variant p.Glu135Lys was detected. In the second patient, triggered by contraceptive therapy, we identified homozygosity for a novel missense variant p.Ala523Gly. In conclusion, these mutations seem to have a late onset and a less aggressive clinical impact, acting as an intermediate form between BRIC and PFIC |
| Disciplinas: | Medicina |
| Palabras clave: | Gastroenterología, Genética, Enfermedades hereditarias, Colestasis intrahepática progresiva familiar, Gama-glutamiltranspeptidasa, Fosfatasa alcalina, Mutaciones, Secuencia génica |
| Keyword: | Medicine, Gastroenterology, Genetics, Hereditary diseases, Progressive familial intrahepatic cholestasis, Gammaglutamyl transpeptidase, Alkaline phosphatase, Mutations, Gene sequence |
| Texte intégral: | Texto completo (Ver PDF) |
