Clinical case of combined genetic pathology in a patient
- Authors: Losik E.A.1, Yakushina I.I.1, Skhirtladze M.R.1, Balahonova N.P.1, Kerchev V.V.1, Garanina I.A.1
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Affiliations:
- Sechenov First Moscow State Medical University (Sechenov University)
- Issue: Vol 92, No 12 (2020)
- Pages: 180-184
- Section: Articles
- URL: https://journals.rcsi.science/0040-3660/article/view/60293
- DOI: https://doi.org/10.26442/00403660.2020.12.200435
- ID: 60293
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Abstract
Family hypercholesterolemia (HSX) is a form of genetically deterministic increase in blood lipid levels associated with a high risk of cardiovascular disease, usually at a young age. HSX is a common genetic disease found in the general population in most countries in 1:500 people. Clinically xantomas are found in achilles tendor and wrist flexors, lipoid arc of the cornea, concentration of total cholesterol and low-density lipoproteins is 4.9–11.6 mmol/l. Gilbert’s syndrome is a hereditary benign hyperbilirubinium, associated with a decrease in the functional activity of the liver enzyme uridinfosfat-glucuronosil transferase. Clinically, this syndrome appers in intermittent jaundice, which is provoked by physical activity, consumption of alcoholic beverages, insulation and an increase in the level of indirect bilirubin within 20–100 micromol/ml. The article presents a rare clinical case of genetic combination of HSC SSC and Gilbert syndrome a young patient has and discusses the elevated bilirubin levels protective role in the atherosclerosis progression in Gilbert syndrome.
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##article.viewOnOriginalSite##About the authors
E. A. Losik
Sechenov First Moscow State Medical University (Sechenov University)
Email: iryakushina@yandex.ru
ORCID iD: 0000-0002-3528-7983
м.н., врач-кардиолог
Russian Federation, MoscowI. I. Yakushina
Sechenov First Moscow State Medical University (Sechenov University)
Author for correspondence.
Email: iryakushina@yandex.ru
ORCID iD: 0000-0002-6818-0840
к.м.н., доц. каф.
Russian Federation, MoscowM. R. Skhirtladze
Sechenov First Moscow State Medical University (Sechenov University)
Email: iryakushina@yandex.ru
ORCID iD: 0000-0002-6946-7771
к.м.н., зав. отд-нием
Russian Federation, MoscowN. P. Balahonova
Sechenov First Moscow State Medical University (Sechenov University)
Email: iryakushina@yandex.ru
ORCID iD: 0000-0003-1900-2885
к.м.н., врач-кардиолог высшей категории
Russian Federation, MoscowV. V. Kerchev
Sechenov First Moscow State Medical University (Sechenov University)
Email: iryakushina@yandex.ru
ORCID iD: 0000-0001-8023-4410
врач-ординатор
Russian Federation, MoscowI. A. Garanina
Sechenov First Moscow State Medical University (Sechenov University)
Email: iryakushina@yandex.ru
ORCID iD: 0000-0003-1135-6558
студентка
Russian Federation, MoscowReferences
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