CLINICAL CASE OF A PATIENT WITH FAMILY HYPERCHOLESTEROLEMIA CAUSED BY MUTATION C.1859G>C (P.W620S) IN THE GENE OF HUMAN LOW DENSITY LIPOPROTEINS RECEPTOR
https://doi.org/10.15829/1728-8800-2015-6-52-53
Abstract
Clinical case of a patient with family hypercholesterolemia caused by mutation c.1859G>C (p.W620S) in the gene of human low density lipoproteins receptor.
About the Authors
V. A. Korneva
Petrozavodsk State University, Petrozavodsk
Russian Federation
Russian Federation
T. Yu. Kuznetsova
Petrozavodsk State University, Petrozavodsk
Russian Federation
Russian Federation
T. Yu. Bogoslovskaya
FSBSI “Institute of Experimental Medicine”, Saint-Petersburg
Russian Federation
Russian Federation
R. Z. Murtazina
FSBSI “Institute of Experimental Medicine”, Saint-Petersburg;
Saint-Petersburg State University, Saint-Petersburg
Russian Federation
Russian Federation
A. V. Didio
FSBSI “Institute of Experimental Medicine”, Saint-Petersburg;
Saint-Petersburg State University, Saint-Petersburg
Russian Federation
Russian Federation
M. P. Serebrenitskaya
I.I. Mechnikov North-West State Medical University, Saint-Petersburg
Russian Federation
Russian Federation
V. O. Konstantinov
I.I. Mechnikov North-West State Medical University, Saint-Petersburg
Russian Federation
Russian Federation
M. Yu. Mandelshtam
FSBSI “Institute of Experimental Medicine”, Saint-Petersburg;
Saint-Petersburg State University, Saint-Petersburg
Russian Federation
Russian Federation
V. B. Vasiliev
FSBSI “Institute of Experimental Medicine”, Saint-Petersburg;
Saint-Petersburg State University, Saint-Petersburg
Russian Federation
Russian Federation
References
1. Presidium of the Expert Council: Karpov YuA, Kukharchuk VV, Boytsov SA. Consensus statement of the Russian National Atherosclerosis Society (RNAS). Familial hypercholesterolemia in Russia: outstanding issues in diagnosis and management. The Journal of Atherosclerosis and Dyslipidemias 2015; 2(19): 5-16. Russian (Президиум экспертного совета: Карпов ЮА, Кухарчук ВВ, Бойцов СА. Заключение совета экспертов Национального общества по изучению атеросклероза (НОА). Семейная гиперхолестеринемия в Российской Федерации: нерешенные проблемы диагностики и лечения. Атеросклероз и дислипидемии 2015; 2 (19): 5-16.
2. Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34(45): 3478-90a.
Review
For citations:
Korneva V.A., Kuznetsova T.Yu., Bogoslovskaya T.Yu., Murtazina R.Z., Didio A.V., Serebrenitskaya M.P., Konstantinov V.O., Mandelshtam M.Yu., Vasiliev V.B. CLINICAL CASE OF A PATIENT WITH FAMILY HYPERCHOLESTEROLEMIA CAUSED BY MUTATION C.1859G>C (P.W620S) IN THE GENE OF HUMAN LOW DENSITY LIPOPROTEINS RECEPTOR. Cardiovascular Therapy and Prevention. 2015;14(6):52-53. (In Russ.) https://doi.org/10.15829/1728-8800-2015-6-52-53
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