PERSONAL DE APOYO
SANSO Elsa Gabriela
congresos y reuniones científicas
Título:
VHL TYPE I AND II: CLINICAL PRESENTATION AND FOLLOW-UP ACCORDING TO AGE
Autor/es:
ANA VIEITES; CECILIA MATHÓ, .; DRA GLORIA LEVIN; GABRIELA GUTIÉRREZ MOYANO; DRA GABRIELA SANSO
Lugar:
Puerto Varas
Reunión:
Congreso; XXV REUNION DE LA SOCIEDAD LATINOAMERICANA DE ENDOCRINOLOGIA PEDIATRICA; 2015
Institución organizadora:
SLEP
Resumen:
Introduction: von Hippel Lindau disease (VHL) is an inheritedsyndrome caused by mutations of the vhl gene. It predisposes tothe development of retinal and CNS hemangiomas, renal or pancreaticcysts/tumors, endolymphatic sac tumors and pheochromocytomas(pheo).Aim: To characterize the clinical presentation of patients withthe VHL disease according to age.Patients and Methods: We evaluated 190 individuals belongingto 33 families by genetic screening of vhl gene. We describedthe clinical presentation and the outcome of 67 patients. They weredivided into 2 groups according to age: group 1,
