Role of podocin gene mutations in assessment of resistance of proteinuric nephritis to standard immunosupressive therapy


S.S. Girina, A.A. Pulin, V.Yu. Kornienko, V.G. Pinelis, A.N. Tcygin, A.Yu. Asanov, L.V. Kozlovskaya, V.V. Fomin, N.A. Mukhin

1 SBEI HPE «First MSMU n.a. I.M. Sechenov» of RMPH 2 FSBI SSC FMBC n.a. A.I. Burnazyan of the FMBA of Russia 3 FSBI SCCH RAMS
Aim. Estimation of risk factors of steroid-resistance, including podocin gene polymorphisms, in patients with chronic glomerulonephritis (CGN) and nephrotic syndrome (NS).
Methods. 54 patients (31 male, 23 female, mean age 34 years) with CGN and NS were included into the study. All patients undergone kidney biopsy. Podocin gene polymorphisms were identified.
Results. In 66 % of patients rs1410592 mutation of podocin gene was detected, in 50 % – rs1410591 mutation, mutations s1079291, IVS5+69T, rs1079292, IVS7+7AG, glu87term, rs12401708, rs38185887, rs61747728, rs3738423, rs2274624 were found less often. Patients with CGN and NS, resistant to steroid therapy, who had combination
of rs1410592 и rs1410591 podocin gene mutation, had lowest serum albumin levels and maximal proteinuria.
Conclusion. Podocin gene mutations can be considered as one of the causes of steroid-resistance in patients with chronic glomerulonephritis and nephrotic syndrome.

About the Autors


Girina S.S., research officer of research division of health-preserving technologies, Research Center SBEU HPE First Moscow State Medical University n.a. I.M. Sechenov of Ministry of Healthcare of Russian Federation
E-mail: girina_ss@mail.ru
Pulin A.A.
MD, PhD, associated professor of chair of internal, professional diseases and pulmonology of medico-prophylaxis faculty SBEU HPE First Moscow State Medical University n.a. I.M. Sechenov of Ministry of Healthcare of Russian Federation; head of cryobank of FSBU SSC FMBC n.a. A.I. Burnazian of FMBA of Russia
Kornienko V.Yu., research officer of FSBU Scientific Center of Child Health of FASI
Pinelis V.G., MD, PhD, professor, leading research officer of laboratory of molecular genetics and cell biology of FSBU Scientific Center of Child Health of FASI
Tsygin A.N., MD, PhD, professor, head of nephrology department of FSBU Scientific Center of Child Health of FASI
Asanov A.Yu., MD, PhD, professor, head of chair of medical genetics of medical faculty of SBEU HPE First Moscow State Medical University n.a. I.M. Sechenov of Ministry of Healthcare of Russian Federation
Kozlovskaya L.V., MD, PhD, professor, professor of chair of internal, professional diseases and pulmonology of medico-prophylaxis faculty SBEU HPE First Moscow State Medical University n.a. I.M. Sechenov of Ministry of Healthcare of Russian Federation
Fomin V.V., MD, PhD, professor, professor of chair of internal, professional diseases and pulmonology of medico-prophylaxis faculty, vice-rector for medical affairs of SBEU HPE First Moscow State Medical University n.a. I.M. Sechenov of Ministry of Healthcare of Russian Federation
Fomin V.V., MD, PhD, professor, professor of chair of internal, professional diseases and pulmonology of medico-prophylaxis faculty, vice-rector for medical affairs of SBEU HPE First Moscow State Medical University n.a. I.M. Sechenov of Ministry of Healthcare of Russian Federation
Moukhin N.A.
academician of RAS, MD, PhD, professor, head of chair of internal, professional diseases and pulmonology of medico-prophylaxis faculty, director of scientific clinical research center of health-preserving technologies SBEU HPE First Moscow State Medical University n.a. I.M. Sechenov of Ministry of Healthcare of Russian Federation


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