perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2017-62-3-32-36perinatology-496Research ArticleПЕРСОНАЛИЗИРОВАННАЯ ПЕДИАТРИЯPERSONALIZED PEDIATRICSМОЛЕКУЛЯРНАЯ НЕФРОПАТОЛОГИЯ: НОВЫЕ ВОЗМОЖНОСТИ ДИАГНОСТИКИ ЗАБОЛЕВАНИЙ ПОЧЕКMOLECULAR NEPHROPATHOLOGY: NEW OPPORTUNITIES FOR KIDNEY DISEASES DIAGNOSTICSМорозовС. Л.MorozovS. L.

Морозов Сергей Леонидович – кандидат медицинских наук, научный сотрудник отдела наследственных и приобретенных болезней почек 

125412 Москва, ул. Талдомская, д. 2.

ДлинВ. В.DlinV. V.

Длин Владимир Викторович – доктор медицинских наук, проф., зав. отделом наследственных и приобретенных болезней почек 

125412 Москва, ул. Талдомская, д. 2.

https://orcid.org/0000-0002-0552-6939СухоруковВ. С.SukhorukovV. S.

Сухоруков Владимир Сергеевич – доктор медицинских наук, профессор, зав. лабораторией общей патологии 

125412 Москва, ул. Талдомская, д. 2.

ВоронковаА. С.VoronkovaA. S.

Воронкова Анастасия Сергеевна – научный сотрудник лаборатории общей патологии 

125412 Москва, ул. Талдомская, д. 2.

ОСП «Научно-исследовательский клинический институт педиатрии им. Ю.Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н.И. ПироговаРоссияAcademician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical UniversityRussian Federation2017280620176233236Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20172017Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/496

В эпоху современной медицины сформировались фундаментальные научные установки в диагностике заболеваний почек, которые основаны на традиционных диагностических инструментах. В представленной статье освещается современный взгляд на возможности диагностики заболеваний почек, основанный на генетических исследованиях. Показана необходимость активного развития методов молекулярной диагностики заболеваний почек, которые не только дополняют традиционные методы, но и дают понимание с точки зрения молекулярной патофизиологии. Активное развитие методов молекулярной диагностики заболеваний почек открывает большой раздел медицины, который можно назвать «молекулярной нефропатологией». Дальнейшее изучение заболеваний почек с позиции молекулярной биологии позволит заново взглянуть на патогенез многих заболеваний и решить ряд проблем с позиций персонализированной терапии, которая учитывает генетические особенности пациента. 

In the era of modern medicine fundamental scientific installation is emerged in the diagnosis of diseases of the kidneys, which are based on traditional diagnostic tools. The presented article describes the modern view on the possibility of diagnosis of kidney diseases, based on genetic studies. The necessity of active development for molecular diagnostic methods of kidney diseases is revealed, which not only complement the traditional methods of research, but also provide insight in point of view of the molecular pathophysiology. Further study of kidney diseases from a position of molecular biology will allow us to take a modern look at the pathogenesis of many diseases and solve a number of problems from the standpoint of personalized therapy that takes into account the genetic characteristics of the patient. 

детимолекулярная нефропатологияДНКРНКпочкисеквенирование NGSнефротический синдромперсонализированная терапияchildrenmolecular nephropathologyDNARNAkidneysnext-generation sequencingnephrotic syndromepersonalized therapyReferencesBenjamin A., Michael M. Molecular nephropathology: ready for prime time? Am J Physiol Renal Physiol 2015; 309: F185– F188, DOI: 10.1152/ajprenal.00153.2015.Benjamin A., Michael M. Molecular nephropathology: ready for prime time? Am J Physiol Renal Physiol 2015; 309: F185– F188, DOI: 10.1152/ajprenal.00153.2015.Broecker V., Mengel M. The significance of histological diagnosis in renal allograft biopsies in 2014. Transpl Int 2015; 28: 136–143, DOI: 10.1111/tri.12446.Broecker V., Mengel M. The significance of histological diagnosis in renal allograft biopsies in 2014. Transpl Int 2015; 28: 136–143, DOI: 10.1111/tri.12446.Mengel M., Reeve J., Bunnag S., Einecke G., Sis B., Mueller T., Kaplan B., Halloran P.F. Molecular correlates of scarring in kidney transplants: the emergence of mast cell transcripts. Am J Transplant 2009; 9: 169–178, DOI: 10.1111/j.1600- 6143.2008.02462.Mengel M., Reeve J., Bunnag S., Einecke G., Sis B., Mueller T., Kaplan B., Halloran P.F. Molecular correlates of scarring in kidney transplants: the emergence of mast cell transcripts. Am J Transplant 2009; 9: 169–178, DOI: 10.1111/j.1600- 6143.2008.02462.Sethi S., Fervenza F.C. Membranoproliferative glomerulonephritis–a new look at an old entity. N Engl J Med 2012; 366: 1119–1131, DOI: 10.1056/NEJMra1108178.Sethi S., Fervenza F.C. Membranoproliferative glomerulonephritis–a new look at an old entity. N Engl J Med 2012; 366: 1119–1131, DOI: 10.1056/NEJMra1108178.Pickering M.C., D’Agati V.D., Nester C.M., Smith R.J., Haas M., Appel G.B. et al. HTC3 glomerulopathy: consensus report. Kidney Int 2013; 84: 1079–1089, DOI: 10.1038/ ki.2013.377.Pickering M.C., D’Agati V.D., Nester C.M., Smith R.J., Haas M., Appel G.B. et al. HTC3 glomerulopathy: consensus report. Kidney Int 2013; 84: 1079–1089, DOI: 10.1038/ ki.2013.377.Hildebrandt F. Genetic kidney diseases. Lancet 2010; 375: 1287–1295, DOI: 10.1016/S0140-6736(10)60236-X.Hildebrandt F. Genetic kidney diseases. Lancet 2010; 375: 1287–1295, DOI: 10.1016/S0140-6736(10)60236-X.Игнатова М.С. Детская нефрология. М: OOO «МИА» 2011; 696. [Ignatova M.S. Pediatric Nephrology. Moscow: OOO «MIA» 2011; 696. (in Russ)]Игнатова М.С. Детская нефрология. М: OOO «МИА» 2011; 696. [Ignatova M.S. Pediatric Nephrology. Moscow: OOO «MIA» 2011; 696. (in Russ)]Hinkes B.G., Mucha B., Vlangos C.N., Gbadegesin R., Liu J., Hasselbacher K. et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2) Pediatrics 2007; 119(4): e907–919, DOI: 10.1542/peds.2006–2164.Hinkes B.G., Mucha B., Vlangos C.N., Gbadegesin R., Liu J., Hasselbacher K. et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2) Pediatrics 2007; 119(4): e907–919, DOI: 10.1542/peds.2006–2164.Hinkes B., Vlangos C., Heeringa S., Mucha B., Gbadegesin R., Liu J. et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2008; 19(2): 365–371, DOI: 10.1681/ ASN.2007040452.Hinkes B., Vlangos C., Heeringa S., Mucha B., Gbadegesin R., Liu J. et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2008; 19(2): 365–371, DOI: 10.1681/ ASN.2007040452.Liapis H., Jain S. The interface of genetics with pathology in alport nephritis. J Am Soc Nephrol 2013; 24: 1925–1927, DOI: 10.1681/ASN.2013080913.Liapis H., Jain S. The interface of genetics with pathology in alport nephritis. J Am Soc Nephrol 2013; 24: 1925–1927, DOI: 10.1681/ASN.2013080913.Meister G., Tuschl T. Mechanisms of gene silencing by double-stranded RNA. Nature 2004; 431: 343–349, DOI: 10.1038/ nature02873.Meister G., Tuschl T. Mechanisms of gene silencing by double-stranded RNA. Nature 2004; 431: 343–349, DOI: 10.1038/ nature02873.Bartels C.L., Tsongalis G.J. MicroRNAs: novel biomarkers for human cancer. Clin Chem 2009; 55: 623–631, DOI: 10.1373/ clinchem.2008.112805.Bartels C.L., Tsongalis G.J. MicroRNAs: novel biomarkers for human cancer. Clin Chem 2009; 55: 623–631, DOI: 10.1373/ clinchem.2008.112805.Schena F.P., Serino G., Sallustio F. MicroRNAs in kidney diseases. New promising biomarkers for diagnosis and monitoring. Nephrol Dial Transplant 2014; 29(4): 755–763, DOI: 10.1093/ndt/gft223.Schena F.P., Serino G., Sallustio F. MicroRNAs in kidney diseases. New promising biomarkers for diagnosis and monitoring. Nephrol Dial Transplant 2014; 29(4): 755–763, DOI: 10.1093/ndt/gft223.Szeto C.-C. Urine miRNA in nephrotic syndrome. Clin Chim Acta 2014; 436: 308–313, DOI: 10.1016/j.cca.2014.06.016.Szeto C.-C. Urine miRNA in nephrotic syndrome. Clin Chim Acta 2014; 436: 308–313, DOI: 10.1016/j.cca.2014.06.016.Serino G., Sallustio F., Cox S.N., Pesce F., Schena F.P. Abnormal miR-148b expression promotes aberrant glycosylation of IgA1 in IgA nephropathy. J Am Soc Nephrol 2012; 23: 814–824, DOI: 10.1681/ASN.2011060567.Serino G., Sallustio F., Cox S.N., Pesce F., Schena F.P. Abnormal miR-148b expression promotes aberrant glycosylation of IgA1 in IgA nephropathy. J Am Soc Nephrol 2012; 23: 814–824, DOI: 10.1681/ASN.2011060567.Putta S., Lanting L., Sun G., Lawson G., Kato M., Natarajan R. Inhibiting microRNA-192 ameliorates renal fibrosis in diabetic nephropathy. J Am Soc Nephrol 2012; 23: 458– 469, DOI: 10.1681/ASN.2011050485.Putta S., Lanting L., Sun G., Lawson G., Kato M., Natarajan R. Inhibiting microRNA-192 ameliorates renal fibrosis in diabetic nephropathy. J Am Soc Nephrol 2012; 23: 458– 469, DOI: 10.1681/ASN.2011050485.Weiland M., Gao X.H., Zhou L., Mi Q.S. Small RNAs have a large impact: circulating microRNAs as biomarkers for human diseases. RNA Biol 2012; 9: 850–859, DOI: 10.4161/ rna.20378.Weiland M., Gao X.H., Zhou L., Mi Q.S. Small RNAs have a large impact: circulating microRNAs as biomarkers for human diseases. RNA Biol 2012; 9: 850–859, DOI: 10.4161/ rna.20378.Zhang C., Zhang W., Chen H.M., Liu C., Wu J., Shi S., Liu Z.H. Plasma microRNA-186 and proteinuria in focal segmental glomerulosclerosis. Am J Kidney Dis 2015; 65: 223– 232; DOI: 10.1053/j.ajkd.2014.07.013Zhang C., Zhang W., Chen H.M., Liu C., Wu J., Shi S., Liu Z.H. Plasma microRNA-186 and proteinuria in focal segmental glomerulosclerosis. Am J Kidney Dis 2015; 65: 223– 232; DOI: 10.1053/j.ajkd.2014.07.013Doaa M.Y., Rabab M.E., Hosam S.A. Soluble Interleukine-2 Receptor and MDR1 Gene Expression Levels as Inflammatory Biomarkers for Prediction of Steroid Response in Children With Nephrotic Syndrome. IJKD 2011; 5: 154–161, DOI: 10.1053/j.ajkd.2014.07.013.Doaa M.Y., Rabab M.E., Hosam S.A. Soluble Interleukine-2 Receptor and MDR1 Gene Expression Levels as Inflammatory Biomarkers for Prediction of Steroid Response in Children With Nephrotic Syndrome. IJKD 2011; 5: 154–161, DOI: 10.1053/j.ajkd.2014.07.013.Julia M.B., Christine E.S., Raman V. PharmGKB summary: cyclosporine and tacrolimus pathways. Pharmacogenet Genomics 2013; 23(10): 563–585, DOI: 10.1097/ FPC.0b013e328364db84.Julia M.B., Christine E.S., Raman V. PharmGKB summary: cyclosporine and tacrolimus pathways. Pharmacogenet Genomics 2013; 23(10): 563–585, DOI: 10.1097/ FPC.0b013e328364db84.

The authors declare that there are no conflicts of interest present.