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Colegio de Medicos y Cirujanos República de Costa Rica

2013, Number 605

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Rev Med Cos Cen 2013; 70 (605)

Enfermedad de Von Hippel Lindau

Rojas BEI

Language: Spanish
References: 11
Page: 181-184
PDF size: 175.06 Kb.


ABSTRACT

The Von Hippel Lindau disease is a genetic disease caused by the VHL tumor suppressor gene, which has the distinction of affecting multiple organs with tumors malignant syndrome with multiple clinical manifestations, that tests our knowledge and our ability to correlate, within the most common clinical manifestations found the retinal angioma, central nervous system hemangiomas and renal cell cancer, but have been described more than 40 injuries in 14 different organs. The diagnosis involves not only the person who has it, but also the family, which must be studied symptoms appear or not, following preestablished protocols for the management of this condition. Treatment is complex and multidisciplinary because of the involvement of different organs caused by this disease.


REFERENCES

  1. Asakawa Takeshi, Esumi Mariko, Endo Sohei, Kida Akinori, Ikeda Minoru. A mutation at IVS1 + 5 of the von Hippel- Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report. BMC Medical Genetics 2012, 13:23

  2. Benhammou Jihane N, Boris Ronald S, Pacak Karel Pinto , Peter A, Linehan W Marston, Bratslavsky Gennady. Functional and Oncologic Outcomes of Partial Adrenalectomy for Pheochromocytoma in VHL Patients After at Least 5 Years of Follow Up. Journal Urology 2010, 184: 1855–1859

  3. Bhatt RS, Zurita AJ, O’Neill A, Norden- Zfoni A, Zhang L, Wu HK, et al. Increased mobilisation of circulating endothelial progenitors in von Hippel-Lindau disease and renal cell carcinoma. British Journal of Cancer 2011, 105: 112 – 117

  4. Jilg C, Neumann H, Glasker S, Schafe O, Ardelt P, Schwardt M, et al. Growth Kinetics in Von Hippel-Lindau- Associated Renal Cell Carcinoma. Urologia Internationalis 2012, 88: 71–78

  5. Maher Eamonn R, Neumann Hartmut P, Richard Stephane. von Hippel– Lindau disease: A clinical and scientific review. European Journal of Human Genetics 2011, 19: 617–623

  6. Salazar R, González C, Rozas P, Castro J. Hemangioma capilar retiniano y enfermedad de von Hippel- Lindau: implicaciones diagnósticas y terapéuticas. Archivos de la sociedad española de oftalmología 2011, 86: 218- 221

  7. Takai keisuke, Taniguchi Makoto, Takahashi Hiroshi, Usui Masaaki, Saito Nobuhito. Comparative Analysis of Spinal Hemangioblastomas in Sporadic Disease and Von Hippel-Lindau Syndrome. Neurol Med Chir 2010, 50:560-567

  8. Tanago Emil A, McAninch Jack W, Urología general de Smith, 11ª Edición Bogotá Colombia: El Manual Moderno. 2000: 23

  9. Toshihiko Matsuoa, Kengo Himeib, Kouichi Ichimurac, Hiroyuki Yanaic, Soichiro Nosed, Tetsushige Mimurae, et al. Long-Term Effect of External Beam Radiotherapy of Optic Disc Hemangioma in a Patient with von Hippel-Lindau Disease. Acta Med. Okayama 2011, 65: 135-141

  10. Wein Alan J, Kavoussi Louis R, Novick Andrew C, Partin Alan W, Campbell-Walsh Urología, 9ª Edición Buenos Aires Argentina: Medica Panamericana, 2008: 16

  11. Wind Joshua J, Lonser Russell R. Management of von Hippel– Lindau disease-associated CNS lesions. Expert Reviews 2011, 11: 1433–1441




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