Aspirantskiy Vestnik PovolzhiyaAspirantskiy Vestnik Povolzhiya2072-23542410-3764Samara State Medical University2450510.17816/2072-2354.2015.0.5-6.170-172Research ArticleTHE DISEASE VON HIPPEL-LINDAU TYPE 2C (VHL SYNDROME)IN TWO GENERATIONS OF ONE FAMILYLUKYANOVS A111lll@mail.ruSERGYIKOS Vssv_1964@mail.ru15092015155-617017211032020Copyright © 2015, LUKYANOV S.A., SERGYIKO S.V.2015The disease von Hippel-Lindau (VHL) is an autosomal dominant inherited disease characterized by predisposition to various cancers. It is caused by a mutation of the 3rd chromosome at the site 3p25/26, where suppression gene of tumor growth is localized. The clinical course of the disease is divided into two types: type 1 - without development of pheochromocytoma (an affection of the retina, tumors of the brain and spinal cord, pancreatic, renal, and splenic cysts, solid pancreatic tumors), type 2 - with the development of pheochromocytoma (subdivided into subtype 2A with a low risk of development of kidney cancer, 2B - high risk of developing kidney cancer, 2C - development of only pheochromocytomas). The paper presents authors’ own observation of the family in two generations with type 2C VHL syndrome.pheochromocytomadisease von Hippel-Lindauфеохромоцитомаболезнь фон Гиппеля-Линдау[Калинин А.П., Казанцева Н.А. Надпочечниковые и вненадпочечниковые феохромоцитомы. - М. 1998. С. 34.][Юкина М.Ю., Тюльпаков А.Н., Трошина Е.А., Бельцевич Д.Г. Болезнь фон Гиппеля-Линдау (VHL-синдром) // Проблемы эндокринологии. 2012. №2. С.34-39.][Юкина М.Ю. Феохромоцитома/параганглиома: клинико-генетические аспекты / М.Ю. Юкина, Е.А. Трошина, Д.Г. Бельцевич, А.Н. Тюльпаков, и др. // Проблемы эндокринологии. 2013. Т. 59. № 3. С. 19-26.][Abbot M.A., Nathanson K.L., Nightingale S. The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma // Am. J. Med. Genet. A. 2006. Apr. 1;140(7). P. 685-90.][Chou A., Toon C., Pickett J., Gill A. Von Hippel-Lindau syndrome // Frontiers of hormone research. 2013. Т. 41. P. 30-49.][Maher E.R. Von Hippel-Lindau disease: a genetic study // J. Med. Genet. 1991. P. 443-447.]