CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
VHL Type I and II: Clinical Presentation and Follow-Up According to Age
Autor/es:
VIEITES, ANA; MATHÓ, CECILIA; LEVIN, GLORIA; GUTIERREZ MOYANO, GABRIELA; SANSÓ, GABRIELA
Lugar:
Puerto Varas
Reunión:
Congreso; XXV Reunión Anual de la Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP); 2015
Institución organizadora:
Sociedad Latinoamericana de Endocrinología Pediátrica (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,