Редкие формы семейной  гиперхолестеринемии, выявленные в Санкт-Петербурге и верифицированные результатами  молекулярно-генетического исследования (разбор клинических  случаев)

V. O. Konstantinov; A. V. Panov; M. P. Serebrenitskaya; N. A. Sonicheva; E. V. Konstantinov

Rare forms of familial hypercholesterolemia revealed in Saint-Petersburg (Russia) and verified by genetic investigation (clinical cases)

Authors

V. O. Konstantinov North-Western State Medical University named after I.I. Mechnikov
A. V. Panov Federal State Budgetary Institution "Almazov National Medical Research Centre" of the Ministry of Health of the Russian Federation
M. P. Serebrenitskaya North-Western State Medical University named after I.I. Mechnikov
N. A. Sonicheva Health-in-Code Laboratory
E. V. Konstantinov Federal State Budgetary Institution "Almazov National Medical Research Centre" of the Ministry of Health of the Russian Federation

Keywords:

familial hypercholesterolemia, genotypic and phenotipic manifestations of LDL-receptorgene mutation - and mutation of apoB-100, management of familial hypercholesterolemia

Abstract

Genotypic and phenotypic manifestations of familial hypercholesterolemia are of great variability. We represent two rare clinical cases of familial hypercholesterolemia. Ayoungfemale with homozygous phenotype (high LDL-C levels, multiple tendon xanthomas and 'premature coronary and cerebral atherosclerosis). Genetic investigation showed revealed 2 different mutations in the LDL-receptorgene. The second case is due to the mutation in apoB-100 gene that was never seen before in the population of Saint-Petersburg.

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2018-06-28

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Konstantinov V. O., Panov A. V., Serebrenitskaya M. P., Sonicheva N. A., Konstantinov E. V. Rare forms of familial hypercholesterolemia revealed in Saint-Petersburg (Russia) and verified by genetic investigation (clinical cases) // The Journal of Atherosclerosis and Dyslipidemias. 2018. VOL. № 2 (31). PP. 59–65.

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No. 2 (31) (2018)

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Clinical Case

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Rare forms of familial hypercholesterolemia revealed in Saint-Petersburg (Russia) and verified by genetic investigation (clinical cases)

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