| Revista: | Annals of hepatology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000412910 |
| ISSN: | 1665-2681 |
| Autors: | Pelusi, Serena1 Rametta, Raffaela1 Corte, Claudia Della2 Congia, Riccardo2 Dongiovanni, Paola1 Pulixi, Edoardo A1 Fargion, Silvia1 Fracanzani, Anna L1 Nobili, Valerio2 Valenti, Luca1 |
| Institucions: | 1Universita degli Studi di Milano, Department of Pathophysiology and Transplantation, Milán, Lombardia. Italia 2Ospedale Pediatrico Bambino Gesu, Hepato-Metabolic Unit, Roma, Lazio. Italia |
| Any: | 2014 |
| Període: | Sep-Oct |
| Volum: | 13 |
| Número: | 5 |
| Paginació: | 568-571 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico, analítico |
| Resumen en inglés | Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder characterized by severe early-onset iron overload, caused by mutations in hemojuvelin (HJV), hepcidin (HAMP), or a combination of genes regulating iron metabolism. Here we describe two JH cases associated with simple heterozygosity for novel HJV mutations and unknown genetic factors. Case 1: A 12 year-old male from Central Italy with beta-thalassemia trait, increased aminotransferases, ferritin 9035 ng/ml and transferrin saturation 84%, massive hepatocellular siderosis and hepatic bridging fibrosis. Case 2: A 12 year-old female from Northern Italy with ferritin 467 ng/ml, transferrin saturation 87-95%, and moderate hepatic iron overload. Material and methods. Direct sequencing of hemochromatosis genes (HFE-TfR2-HJV-HAMP-FPN-1) was performed in the children and siblings. Results. In case 1, we detected heterozygosity for a novel HJV mutation (g.3659_3660insG), which was inherited together with the beta thalassemia trait from the father, who (as well as the mother) had normal iron parameters. In case 2, we detected another novel HJV mutation (g.2297delC) in heterozygosity, which was inherited from the mother, affected by mild iron deficiency. The father had normal iron stores. Both mutations are frameshifts determining premature stop codons. No other disease causing variant was detected. Conclusion. Although beta-thalassemia trait was a possible cofactor of iron overload in case 1, iron overload cannot be explained by simple heterozygosity for HJV mutations in both cases. Other genetic factors should be investigated, and further studies are needed to understand genotype-phenotype correlations in JH |
| Disciplines | Medicina |
| Paraules clau: | Gastroenterología, Metabolismo y nutrición, Genética, Hemocromatosis, Enfermedades hereditarias, Sobrecarga de hierro, Mutaciones génicas |
| Keyword: | Medicine, Gastroenterology, Metabolism and nutrition, Genetics, Hemochromatosis, Hereditary diseases, Iron overload, Gene mutations |
| Text complet: | Texto completo (Ver PDF) |
