Genetic profile of patients with atypical hemolytic uremic syndrome


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Objective. analysis of the spectrum of genetic mutations in patients with atypical hemolytic uremic syndrome (ahus). 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 № 52, from 2014 to 2021. results. mutations in the complement system were found in 68% of patients with ahus. mutations in the cfhri 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 (cfhri, 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 cfhri, 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.

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作者简介

Ekaterina Ivanova

Moscow City Scientific and Practical Center for Nephrology and Transplanted Kidney Pathology “City Clinical Hospital № 52” of the Moscow Healthcare Department

Email: katerineiv@mail.ru
Cand. Sci. (Med.), Nephrologist, Nephrology Department № 1 Moscow, Russia

Ekaterina Stolyarevich

Moscow City Scientific and Practical Center for Nephrology and Transplanted Kidney Pathology “City Clinical Hospital № 52” of the Moscow Healthcare Department; A.I. Yevdokimov Moscow State University of Medicine and Dentistry

Email: stolyarevich@yandex.ru
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 Moscow, Russia

Oleg Kotenko

Moscow City Scientific and Practical Center for Nephrology and Transplanted Kidney Pathology “City Clinical Hospital № 52” of the Moscow Healthcare Department

Email: olkotenko@yandex.ru
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 Moscow, Russia

Vladimir Vinogradov

Moscow City Scientific and Practical Center for Nephrology and Transplanted Kidney Pathology “City Clinical Hospital № 52” of the Moscow Healthcare Department

Email: vino-gradoff@yandex.ru
Head of the Consultative and Diagnostic Nephrology Department Moscow, Russia

Lyudmila Artyukhina

Moscow City Scientific and Practical Center for Nephrology and Transplanted Kidney Pathology “City Clinical Hospital № 52” of the Moscow Healthcare Department

Email: arlyu-1404@yandex.ru
Cand.Sci. (Med.), Head of the Nephrology Department № 1 Moscow, Russia

Nadiya Frolova

Moscow City Scientific and Practical Center for Nephrology and Transplanted Kidney Pathology “City Clinical Hospital № 52” of the Moscow Healthcare Department

Email: nadiya.frolova@yandex.ru
Cand. Sci.(Med.), Deputy Chief Physician for Nephrological Care Moscow, Russia

Petr Shatalov

National Medical Research Center for Radiology

Cand. Sci. (Med.), Head ofthe Molecular Genetic Service Obninsk, Russia

Valery Ilyinsky

ООО Genotech LLC

General Director Moscow, Russia

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