Русский
Genetic profile of patients with atypical hemolytic uremic syndrome
DOI: https://dx.doi.org/10.18565/nephrology.2022.2.25-32
E.S. Ivanova, E.S. Stolyarevich, O.N. Kotenko, V.E. Vinogradov, L.Yu. Artyukhina, N.F. Frolova, P.A. Shatalov, V.V. Ilyinsky
1) Moscow City Scientific and Practical Center for Nephrology and Transplanted Kidney Pathology “City Clinical Hospital No 52” of the Moscow Healthcare Department, Moscow, Russia; 2) Department of Nephrology, A.I. Yevdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia; 3) National Medical Research Center for Radiology, Obninsk, Russia; 4) OOO Genotech LLC, Moscow, Russia
Material and methods. A retrospective study based on the results of a genetic study of 44 patients with aHUS, who were followed-up at the Scientific and Practical Center for Nephrology and Pathology of a Transplanted Kidney, City Clinical Hospital No 52, from 2014 to 2021.
Results. Mutations in the complement system were found in 68% of patients with aHUS. Mutations in the CFHR1 and CFHR3 genes were the most common among aHUS-specific mutations in 13 (30%) patients. Less common were mutations in the C3 genes - 11 (26%) patients, CFH - 8 (19%) patients, CD46 - 2 (5%) patients. Genetic mutations characteristic of aHUS (CFHR1, CFHR3, CFH, CFI, C3, CD46, THBD) were found in 5 out of 7 patients with obstetric aHUS. Among 11 patients with aHUS in their own kidneys without renal replacement therapy, 6 had pathogenic mutations, which in most cases (4 patients) were represented by CFHR1, CFHR3 mutations. In the group of patients with aHUS and ESRD, pathogenic mutations were found in 8 out of 10 patients, in the group of aHUS and cadaveric kidney allotransplantation – in 11 out of 16 patients. In both groups, mutations in C3, CFH and CFHR1, CFHR3 were detected more often, and heart damage prevailed among target organ damage.
Conclusion. The data obtained provide information on the genetic causes of the disease and genotype-phenotype correlations that can predict disease progression, response to therapy, and risk of relapse after transplantation. This allows for an individual approach to patient management and treatment based on expert interpretation of genetic profiles, which requires genetic screening in each patient.
About the Autors
Ekaterina S. Ivanova – Cand. Sci. (Med.), Nephrologist, Nephrology Department № 1, City Clinical Hospital № 52 of the Moscow Healthcare Department. Address: 3 Pekhotnaya st., Moscow, 123182; e-mail: katerineiv@mail.ru
ORCID: https://orcid.org/0000-0001-7407-5695
Ekaterina S. Stolyarevich – Dr. Sci. (Med.), Professor at the Department of Nephrology, FPGE , A.I. Yevdokimov Moscow State University of Medicine and Dentistry, Morbid Anatomist at the pathologist of the Department of Pathologic Anatomy, City Clinical Hospital № 52 of the Moscow Healthcare Department. Address: 3 Pekhotnaya st., Moscow, 123182; e-mail: Stolyarevich@yandex.ru
ORCID: https://orcid.org/0000-0002-0402-8348
Oleg N. Kotenko – Cand. Sci. (Med.), Chief Freelance Expert in Nephrology of the Moscow Healthcare Department, Head of the Scientific and Practical Center for Nephrology and Transplanted Kidney Pathology, City Clinical Hospital № 52 of the Moscow Healthcare Department. Address: 3 Pekhotnaya st., Moscow, 123182; e-mail: olkotenko@yandex.ru ORCID: https://orcid.org/0000-0001-8264-7374
Lyudmila Yu. Artyukhina – Cand.Sci. (Med.), Head of the Nephrology Department № 1, City Clinical Hospital № 52 of the Moscow Healthcare Department. Address: 3 Pekhotnaya st., Moscow, 123182; e-mail: arlyu-1404@yandex.ru
ORCID: https://orcid.org/0000-0003-3353-1636
Vladimir E. Vinogradov – Head of the Consultative and Diagnostic Nephrology Department, City Clinical Hospital № 52 of the Moscow Healthcare Department. Address: 3 Pekhotnaya st., Moscow, 123182; e-mail: vino-gradoff@yandex.ru
ORCID: https://orcid.org/0000-0002-0184-346X
Nadiya F. Frolova – Cand. Sci.(Med.), Deputy Chief Physician for Nephrological Care, City Clinical Hospital № 52 of the Moscow Healthcare Department. Address: 3 Pekhotnaya st., Moscow, 123182; e-mail: nadiya.frolova@yandex.ru
ORCID: http://orcid.org/0000-0002-6086-5220
Petr A. Shatalov – Cand. Sci. (Med.), Head of the Molecular Genetic Service, National Medical Research Center for Radiology. Address: 4 Korolev st., Obninsk, Kaluga region, 249036 ORCID: https://orcid.org/0000-0001-5374-8547
Valery V. Ilyinsky – General Director, OOO Genotech. Address: Entrance 14, building 1, 17 Nastavnichesky lane, Moscow, 105120 ORCID: https://orcid.org/0000-0003-4377-2759
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