Clinical genetic counselling and rehabilitation treatment of a patient with Guillain–Barré syndrome after COVID-19
- Authors: Ponomareva N.Y.1, Koshelev R.V.1, Lazarev V.V.1, Kochetkov A.V.1,2
-
Affiliations:
- Federal Research and Clinical Center of Medical Rehabilitation and Balneology
- Federal Research and Clinical Center for Specialized Medical Care and Medical Technologies
- Issue: Vol 25, No 4 (2022)
- Pages: 499-504
- Section: SHORT COMMUNICATIONS
- URL: https://journals.rcsi.science/1028-7221/article/view/120107
- DOI: https://doi.org/10.46235/1028-7221-1166-CGC
- ID: 120107
Cite item
Full Text
Abstract
The authors present a clinical case of rehabilitation after the development of Guillain–Barré syndrome, an acute autoimmune inflammatory polyradiculoneuropathy, in a patient who underwent a SARS CoV-2 infection. The patient previously manifested with severe comorbidities (arterial hypertension, hypercholesterolemia, type 2 diabetes mellitus, stenosing atherosclerosis of brachiocephalic arteries). A diagnostic panel of single nucleotide gene polymorphisms associated with risk factors of cardiovascular diseases, metabolic disorders, immunopathology, pharmacogenetics was applied using PCR-RT “Genetic Passport” test system, and the results were interpreted in order to predict potential complications, adverse drug reactions and the choice of biomarkers for preventive measures. We have compared clinical manifestations, comorbid background and the identified genotype features, as follows: minor homo- and heterozygous variants of ACE, AGT, CYP1A2, NOS3, PPARD, EDN, PALLD, SNX19 genes associated with predisposition to cardiovascular diseases, increasing the risk of dysregulation of blood pressure, development of endothelial dysfunction. The following gene variants were revealed: FXII, ITGA2, ITGB3, MTHFR, MTRR, MTR, PAI-1 that increase the risk of venous and arterial thrombosis, along with gene variants of ADRB3, FTO, INSIG2, KCNG11, LEP, PPARD, TCF7L2, ApoC3, PON1 associated with carbohydrate and lipid metabolism disorders; polymorphisms in the genes determining the immune response, i.e., IL4, IL6, IL8, IL10, CDH1, BDNF1, CRP, CCR5 (with del32 allele considered a risk factor of severe SARS-CoV-2), homozygous polymorphism of a gene of FCGR2 associated with risk of antigen-antibody-complement-mediated cytotoxicity, circulation arrest, deposition of immune complexes in endothelium of microvessels, decreased antithrombotic effects and increased procoagulant activity. Pharmacogenetic study revealed a variant of the CYP4F2 gene, a CYP2C19 gene polymorphism associated with delayed metabolism of a number of pharmaceuticals which requires higher drug dosage, or choosing a drug with a different mechanism of action; gene variants of CYP1A2, GSTP1, GSTT1 reducing efficiency of the cellular detoxification system; NAT2*5 and NAT2*6 variants determining a decrease in appropriate enzyme activities when administering a standard dose of drugs with slowdown of their detoxification, accumulation of toxic metabolites causing clinical adverse effects (hepatotoxicity, dyspepsia, lupus-like syndrome, polyneuritis). Based on the genotype that determines pathogenesis of the multifactorial pathology (including immune-mediated complications of COVID-19), a personalized approach is recommended to the patient, in terms of treatment and prevention of complications. On the basis of testing the biochemical, immunological and blood coagulation biomarkers, an adequate choice of pharmaceuticals is recommended for the patient.
Full Text
##article.viewOnOriginalSite##About the authors
N. Yu. Ponomareva
Federal Research and Clinical Center of Medical Rehabilitation and Balneology
Author for correspondence.
Email: ponomarevanyu@ckbvl.net
PhD (Medicine), Clinical Geneticist, Head, Department of Personalized Medicine
Russian Federation, МоскваR. V. Koshelev
Federal Research and Clinical Center of Medical Rehabilitation and Balneology
Email: ponomarevanyu@ckbvl.net
PhD, MD (Medicine), Acting General Director
Russian Federation, MoscowV. V. Lazarev
Federal Research and Clinical Center of Medical Rehabilitation and Balneology
Email: ponomarevanyu@ckbvl.net
PhD (Medicine), Head, Department of Neurology
Russian Federation, MoscowA. V. Kochetkov
Federal Research and Clinical Center of Medical Rehabilitation and Balneology; Federal Research and Clinical Center for Specialized Medical Care and Medical Technologies
Email: ponomarevanyu@ckbvl.net
PhD, MD (Medicine), Professor, Head, Department of Rehabilitation, Academy of Postgraduate Education; Deputy Chief Physician for Science and Medical Technology
Russian Federation, Moscow; MoscowReferences
- Вологжанин Д.А., Голота А.С., Камилова Т.А., Шнейдер О.В., Щербак С.Г. Генетика COVID-19 // Клиническая практика, 2021. № 12 (1). C. 41-52. [Vologzhanin D.A., Golota A.S., Kamilova T.A., Schneider O.V., Shcherbak S.G. Genetics of COVID-19. Klinicheskaya praktika = Clinical Practice, 2021, no. 12 (1), pp. 41-52. (In Russ.)]
- Генетический паспорт – основа индивидуальной и предиктивной медицины. Под. ред В.С. Баранова. СПб.: Издательство Н-Л, 2009. 528 с. [Genetic passport – the basis of individual and predictive medicine / Ed. V.S. Baranov]. St. Petersburg: N-L Publishing house, 2009. 528 p.
- Сычев Д.А., Кукес В.Г., Ташенова А.И. Фармакогенетическое тестировние – новая медицинская технология // Модернизация здравоохранения: политика и управление в здравоохранении, 2010. № 2. C. 39-43. [Sychev D.A., Kukes V.G., Tashenova A.I. Pharmacogenetic testing: a new medical technology. Modernizatsiya zdravookhraneniya: politika i upravlenie v zdravookhranenii = Health Modernization: Health Policy and Management, 2010, no. 2, pp. 39-43. (In Russ.)]
- Хаитов Р.М., Алексеев Л.П., Кофиади И.А. Роль иммуногенетики в решении фундаментальных и прикладных задач персонализированной медицины // Медицина экстремальных ситуаций, 2016. № 3. С. 9-24. [Khaitov R.M., Alekseev L.P., Kofiadi I.A. The role of immunogenetics in solving the fundamental and applied problems of personalized medicine. Meditsina ekstremalnykh situatsiy = Medicine of Extreme Situations, 2016, no. 3, pp. 9-24. (In Russ.)]
- Чернова А.А., Толстокорова Ю.А. Роль однонуклеотидного полиморфизма гена CCR5 в развитии ревматоидного артрита // Российский иммунологический журнал, 2019. № 4. C. 15-17. [Chernova A.A., Tolstokorova J.A. The role of the single nucleotide polymorphism of the CCR5 gene in the development of rheumatoid arthritis. Rossiyskiy immunologicheskiy zhurnal = Russian Journal of Immunology, 2019, no. 4, pp. 15-17. (In Russ.)]