ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/2071-8713-4955ometendo-4955Research ArticleСтатьиArticlesСиндром фон Хиппеля-ЛиндауSindrom Von Hippel–LindauErshovaE VYu99pol06@rambler.ruYukinaM YuKuronova@yandex.ruTroshinaEkaterina AnatolyevnaTroshina@inbox.ruBel'tsevichDmitriy GermanovichBeltsevich@rambler.ruMustafaevaE ZPumba1@yandex.ruФГУ "Эндокринологический научный центр" Минздравсоцразвития России, МоскваРоссияEndocrinology Research Centre, MoscowRussian FederationФГУ "Эндокринологический научный центр" Минздравсоцразвития России, МоскваRussian Federation20111506201182№2 (2011)6568Copyright © Ershova E.V., Yukina M.Y., Troshina E.A., Bel'tsevich D.G., Mustafaeva E.Z., 20112011Ershova E.V., Yukina M.Y., Troshina E.A., Bel'tsevich D.G., Mustafaeva E.Z.Ershova E.V., Yukina M.Y., Troshina E.A., Bel'tsevich D.G., Mustafaeva E.Z.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.omet-endojournals.ru/jour/article/view/4955

Синдром фон Хиппеля-Линдау - системное заболевание, проявляющееся множественным опухолевым ростом, наследуемое по аутосомно-доминантному типу с высокой пенетрантностью. Понимание патогенеза заболевания важно для определения времени начала скрининга на предмет наличия опухоли и адекватного лечения, в том числе метаболических нарушений.

Von Hippel-Lindau syndrome - a systemic disease manifesting with multiple tumor growth, inherited by autosomal-dominant type with high penetrance. Understanding the pathogenesis of the disease is important for determining the start time of screening for the presence of the tumors and adequate treatment, including metabolic disorders.

синдром фон Хиппеля-Линдауфеохромоцитомагемангиоматоз сетчаткиvon Hippel-Lindau syndromepheochromocytomaretinal angiomatosisReferencesChen F., Kishida T., Yao M. et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlation with phenotype // Hum Mutat. - 1995. - № 5. - Р. 66-75.Chen F., Kishida T., Yao M. et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlation with phenotype // Hum Mutat. - 1995. - № 5. - Р. 66-75.Choyke P.L., Glenn G.M., Walther M.M. et al. von Hippel-Lindau disease: Genetic, clinical, and imaging features // Radiology. - 1995. - № 194. - Р. 629-42.Choyke P.L., Glenn G.M., Walther M.M. et al. von Hippel-Lindau disease: Genetic, clinical, and imaging features // Radiology. - 1995. - № 194. - Р. 629-42.Corcos O., Couvelard A., Giraud S. et al. Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features // Pancreas. - 2008. - № 37(1). - Р. 85-93.Corcos O., Couvelard A., Giraud S. et al. Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features // Pancreas. - 2008. - № 37(1). - Р. 85-93.DeLellis R.A., Lloyd R.V., Heitz P.U. et al. World Health Organization classification of tumours: Pathology and genetics of tumours of endocrine organs // IARC Press, Lyon. - 2004.DeLellis R.A., Lloyd R.V., Heitz P.U. et al. World Health Organization classification of tumours: Pathology and genetics of tumours of endocrine organs // IARC Press, Lyon. - 2004.Eisenhofer G., Walther M.M., Huynh T.T. et al. Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes // JCEM. - 2001. - № 86. - Р. 1999-2008.Eisenhofer G., Walther M.M., Huynh T.T. et al. Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes // JCEM. - 2001. - № 86. - Р. 1999-2008.Filling-Katz M.R., Choyke P.L., Oldfield E. et al. Central nervous system involvement in von Hippel-Lindau disease // Neurology. - 1991. - № 41. - Р. 41-46.Filling-Katz M.R., Choyke P.L., Oldfield E. et al. Central nervous system involvement in von Hippel-Lindau disease // Neurology. - 1991. - № 41. - Р. 41-46.Gross D., Avishai N., Meiner V. et al. Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene // JCEM. - 1996. - № 81. - Р. 147-49.Gross D., Avishai N., Meiner V. et al. Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene // JCEM. - 1996. - № 81. - Р. 147-49.Hough M.T., Stephens D.H., Johnson C.D. et al. Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings // Am J Roentgenol. - 1994. - № 162. - Р. 1091-94.Hough M.T., Stephens D.H., Johnson C.D. et al. Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings // Am J Roentgenol. - 1994. - № 162. - Р. 1091-94.Koch C.A., Mauro D., Walther M.M. et al. Pheochromocytomas in VHL disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2 // Endocrine Pathol. - 2002. - № 13(1). - Р. 17-27.Koch C.A., Mauro D., Walther M.M. et al. Pheochromocytomas in VHL disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2 // Endocrine Pathol. - 2002. - № 13(1). - Р. 17-27.Latif F., Tory K., Gnarra J. et al. Identification of the von Hippel-Lindau disease tumor suppressor gene // Science. - 1993. - № 260. - Р. 1317-20.Latif F., Tory K., Gnarra J. et al. Identification of the von Hippel-Lindau disease tumor suppressor gene // Science. - 1993. - № 260. - Р. 1317-20.Lubenksy I.A., Pack S.D., Ault D. et al. Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients // Am J Pathol. - 1998. - № 153. - Р. 223-31.Lubenksy I.A., Pack S.D., Ault D. et al. Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients // Am J Pathol. - 1998. - № 153. - Р. 223-31.Maher E.R., Iselius L., Yates J.R. et al. von Hippel-Lindau disease: a genetic study // J Med Genet. - 1991. - № 28. - Р. 443-47.Maher E.R., Iselius L., Yates J.R. et al. von Hippel-Lindau disease: a genetic study // J Med Genet. - 1991. - № 28. - Р. 443-47.Marcos H.B., Libutti S.K., Alexander H.R. et al. Neuroendocrine tumors of the pancreas in von Hippel-Lindau disease: spectrum of appearances at CT and MR imaging with histopathologic comparison // Radiology. - 2002. - № 225. - Р. 751-58.Marcos H.B., Libutti S.K., Alexander H.R. et al. Neuroendocrine tumors of the pancreas in von Hippel-Lindau disease: spectrum of appearances at CT and MR imaging with histopathologic comparison // Radiology. - 2002. - № 225. - Р. 751-58.Neumann H.P., Berger D.P., Sigmund G. et al. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease // N Engl J Med. - 1993. - № 329. - Р. 1531-38.Neumann H.P., Berger D.P., Sigmund G. et al. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease // N Engl J Med. - 1993. - № 329. - Р. 1531-38.Pacak K., Chrousos G.P., Koch C.A. et al. Pheochromocytoma: progress in diagnosis, therapy, and genetics. In Adrenal Disorders. A. Margioris & G.P. Chrousos, Eds.: 379-413. Humana Press. New York, NY. - 2001.Pacak K., Chrousos G.P., Koch C.A. et al. Pheochromocytoma: progress in diagnosis, therapy, and genetics. In Adrenal Disorders. A. Margioris & G.P. Chrousos, Eds.: 379-413. Humana Press. New York, NY. - 2001.Wanebo J.E., Lonser R.R., Glenn G.M. et al. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel- Lindau disease // J Neurosurg. - 2003. - № 98. - Р. 82-94.Wanebo J.E., Lonser R.R., Glenn G.M. et al. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel- Lindau disease // J Neurosurg. - 2003. - № 98. - Р. 82-94.Weise M., Merke D.P., Pacak K. et al. Utility of plasma free metanephrines for detecting childhood pheochromocytoma // JCEM. - 2002. - № 87. - Р. 1955-60.Weise M., Merke D.P., Pacak K. et al. Utility of plasma free metanephrines for detecting childhood pheochromocytoma // JCEM. - 2002. - № 87. - Р. 1955-60.

The authors declare that there are no conflicts of interest present.