CLINICAL CASE OF COMBINED GENETIC PATHOLOGY IN A PATIENT


  • I.I. Yakushina First Moscow State Medical University, Russia
  • M.R. Skhirtladze First Moscow State Medical University, Russia
  • N.P. Balahonova First Moscow State Medical University, Russia
  • V.T. Ivashkin First Moscow State Medical University, Russia
  • E.A. Losik First Moscow State Medical University, Russia
  • V.V. Kerchev First Moscow State Medical University, Russia
  • I.A. Garanina First Moscow State Medical University, Russia
  • D.G. Chekryzhova First Moscow State Medical University, Russia
  • I.M. Sechenov First Moscow State Medical University, Russia
Keywords: gene mutation, genetic testing, familial hypercholesterolemia, Gilbert’s syndrome.

Abstract

CLINICAL CASE OF COMBINED GENETIC PATHOLOGY IN A PATIENT

References

1. Watts G. F., Gidding S., Wierzbicki A. S., Toth P. P., Alonso R., Brown W. V., Bruckert E., Defesche J., Lin K. K., Livingston M., Mata P., Parhofer K. G., Raal F. J., Santos R. D., Sijbrands E. J., Simpson W. G., Sullivan D. R., Susekov A. V., Tomlinson B., Wiegman A., Yamashita S., Kastelein J. J. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation // Int J Cardiol. 2014; 171(3): 309-25.

2. Sharifi M., Rakhit R. D., Humphries S. E., Nair D. Cardiovascular risk stratification in familial hypercholesterolaemia // Heart. 2016; 102(13): 1003-1008.

3. Claridge L. C., Armstrong M. J., Booth C. et al. Gilbert’s syndrome // BMJ. 2011; 342: d2293.

4. Farheen S., Sengupta S., Santra A. et al. Gilbert’s syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene // World Journal of Gastroenterology. 2006; 12(14): 2269-2275.

5. Emel’yanova E.S. Familial hypercholesterolemia-diagnostic aspects of the disease and methods of treatment at the present stage// Nauchnoe soobshchestvo studentov: Mezhdisciplinarnye issledovaniya: sb. st. po mat. XXVII mezhdunar. stud. nauch.-prakt. konf. № 16(27) URL: https://sibac.info/archive/meghdis/16(27).pdf (accessed date: 12.09.2019).

6. Henderson R., O’Kane M., McGilligan V., Watterson S. The genetics and screening of familial hypercholesterolaemia // Journal of Biomedical Science. 2016; 23: 39.

7. Vítek L. Bilirubin and Atherosclerotic Diseases // Physiol. 2017; 66(1): 11-20.
Published
2019-11-07
How to Cite
Yakushina, I., Skhirtladze, M., Balahonova, N., Ivashkin, V., Losik, E., Kerchev, V., Garanina, I., Chekryzhova, D., & Sechenov, I. (2019). CLINICAL CASE OF COMBINED GENETIC PATHOLOGY IN A PATIENT. Biological Markers in Fundamental and Clinical Medicine (scientific Journal), 3(1), 36-37. https://doi.org/10.29256/v.03.01.2019.escbm21
Section
Selected abstracts