Feocromocitoma asociado a enfermedad von Hippel–Lindau
| Autor: | Juan José Puente Lanzarote, Gloria Bueno Lozano, María Santamaría González, J. Otero, Angela Marina Ascaso Matamala, Soraya Rebollar González |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Pathology
medicine.medical_specialty endocrine system diseases Clinical Biochemistry Disease urologic and male genital diseases Normetanephrine Pheochromocytoma 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Blurred vision 030225 pediatrics Medicine In patient 030212 general & internal medicine Family history neoplasms Early onset business.industry Biochemistry (medical) medicine.disease female genital diseases and pregnancy complications chemistry Familial Cancer medicine.symptom business |
| Zdroj: | Revista del Laboratorio Clínico. 9:21-24 |
| ISSN: | 1888-4008 |
| Popis: | Von Hippel–Lindau (VHL) disease (OMIM: 193300) is a familial cancer syndrome, associated with various benign and malignant tumours, mainly retinal and central nervous system haemangioblastomas, renal cell carcinomas and pheochromocytomas. We describe the case of a 8 years old patient with arterial hypertension, blurred vision and family history of pheochromocytoma. A left adrenal mass is observed in doppler ultrasonography and high levels of normetanephrines in orine. Identification of a mutation in the VHL gen (OMIM: 608537) confirms the diagnosis of VHL disease. The diagnosis should be suspected in patients with early onset of pheochromocytoma, even more if there is a family history of this kind of tumors. |
| Databáze: | OpenAIRE |
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