Clinical nephrologyClinical nephrologyКлиническая нефрология2075-35942414-9322Bionika Media261658ArticlesСтатьиPolymorphism of podocyte protein genes in nephrotic glomerulonephritis, resistant to standard regimens of immunosupressive therapyПолиморфизм генов подоцитарных белков у больных хроническим гломерулонефритом с нефротическим синдромом, резистентным к стандартным схемам иммуносупрессивной терапииGirinaS SГиринаС С

ГБОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития России

FominV VФоминВ В

ГБОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития России

PulinA AПулинА А

ГБОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития России

MukhinN AМухинН А

ГБОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития России

GirinaS SFominV VPulinA AMukhinN AГБОУ ВПО Первый МГМУ имени И.М. Сеченова Минздравсоцразвития России150220121NO1 (2012)№1 (2012)414821022023Copyright ©; 2012, Bionika MediaCopyright ©; 2012, ООО «Бионика Медиа»2012Bionika MediaООО «Бионика Медиа»https://journals.eco-vector.com/2075-3594/article/view/261658

Identification of podocyte gene mutations as an approach to recognition of the nature of the resistant nephrotic syndrome in chronic glomerulonephritis

В статье демонстрируется значение мутаций подоцитарных генов в формировании резистентного к лечению нефротического синдрома при хроническом гломерулонефрите

nephrotic syndromeresistancechronic glomerulonephritispodocytepodocyte proteinsgene mutationsнефротический синдромрезистентностьхронический гломерулонефритподоцитподоцитарные белкимутациигены подоцитовBrahm M., Brammer M., Balsløv J.T. et al. Prognosis in glomerulonephritis. III. A longitudinal analysis of changes in serum creatinine and proteinuria during the course of disease: effect of immunosuppressive treatment. Report from Copenhagen Study Group of Renal Diseases. J Intern Med. 1992; 231(4): 339-347.Ponticelli C. Membranous nephropathy. J Nephrol. 2007; 20: 268-287.van Husen M., Kemper M.J. New therapies in steroid-sensitive and steroid-resistant idiopathic nephrotic syndrome. Pediatr Nephrol. 2011; 26(6): 881-892.Carraro M., Caridi G., Bruschi M. et al. Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2002; 13: 1946-1952.Benoit G., Machuca E., Antignac C. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol. 2010; 25: 1621-1632.Machuca E., Benoit G., Antignac C. Genetics of nephritic syndrome: connecting molecular genetics to podocyte physiology. Hum Mol Genet. 2009; 18: R185-R194.Wing M.R., Bourdon D.M., Harden T.K. PLC-epsilon: a shared effector protein in Ras-, Rho-, and G alpha beta gammamediated signaling. Mol Interv. 2003; 3: 273-280.Hinkes B., Wiggins R.C., Gbadegesin R. et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 2006; 38: 1397-1405.Lehtonen S., Ryan J.J., Kudlicka K. et al. Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex. Proc Natl Acad Sci USA. 2005; 102: 9814-9819.Diez-Sampedro A., Lenz O., Fornoni A. Podocytopathy in diabetes: a metabolic and endocrine disorder. Am J Kidney Dis. 2011; 58(4): 637-646.Yuan H., Takeuchi E., Taylor G.A. et al. Nephrin dissociates from actin, and its expression is reduced in early experimental membranous nephropathy. J Am Soc Nephrol. 2002; 13: 946-956.Shea-Simonds P., Cairns T.D., Roufosse C., Cook T., Vyse T.J. Lupus podocytopathy. Rheumatology (Oxford). 2009; 48(12): 1616-1618.Boute N., Gribouval O., Roselli S. et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet. 2000; 24: 349-354.Чеботарева Н.В., Бобкова И.Н., Козловская Л.В. Нефринурия как показатель структурно-функциональных нарушений гломерулярного фильтра у больных протеинурическими формами нефрита. Клиническая нефрология. 2010; 4: 51-55.Rapola J., Sariola H., Ekblom P. Pathology of fetal congenital nephrosis: immunohistochemical and ultrastructural studies. Kidney Int. 1984; 25: 701-707.Kaukinen A., Kuusniemi A.M., Lautenschlager I., Jalanko H. Glomerular endothelium in kidneys with congenital nephrotic syndrome of the Finnish type (NPHS1). Nephrol Dial Transplant. 2008; 23: 1224-1232.Kaukinen A., Lautenschlager I., Helin H. et al. Peritubular capillaries are rarefied in congenital nephritic syndrome of the Finnish type. Kidney Int. 2009; 75: 1099-1108.Ingulli E., Tejani A. Incidence, treatment, and outcome of recurrent focal segmental glomerulosclerosis posttransplantation in 42 allografts in children-a single-center experience. Transplantation. 1991; 51: 401-405.Kestila M., Lenkkeri U., Mannikko M. et al. Positionally cloned gene for a novel glomerular protein-nephrin is mutated in congenital nephrotic syndrome.Mol.Cell. 1998; 1: 575-582.Lenkkeri U., Mannikko M., McCready P. et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet. 1999; 64: 51-61.Philippe A., Nevo F., Esquivel E.L. et al. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2008; 19: 1871-1878.Laakkonen H., Lönnqvist T., Uusimaa J. et al. Muscular dystonia and athetosis in six patients with congenital nephritic syndrome of the Finnish type (NPHS1). Pediatr Nephrol. 2006; 21:182-189.Koziell A., Grech V., Hussain S. et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephritic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet. 2002; 11: 379-388.Tsukaguchi H., Sudhakar A., Le T.C. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest. 2002; 110:1659-1666.Pereira A.C., Pereira A.B., Mota G.F. et al. NPHS2 R229Q functional variant is associated with micro-albuminuria in the general population. Kidney Int. 2004; 65:1026-1030.Huber T.B., Simons M., Hartleben B. et al. Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet. 2003; 12:3397-3405.Roselli S., Heidet L., Sich M. et al. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol Cell Biol. 2004; 24: 550-560.Roselli S., Moutkine I., Gribouval O. et al. Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. Traffic. 2004; 5: 37-44.Hinkes B., Vlangos C., Heeringa S. et al. Specific Podocin Mutations Correlate With Age of Onset in Steroid-Resistant Nephrotic Syndrome J Am Soc Nephrol. 2008; 19: 365-371.Lowik M., Levtchenko E., Westra D. et al. Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerrosis Nephrol Dial Transplant. 2008; 23: 3146-3151.Shih N.Y., Li J., Karpitskii V. et al. Congenital nephritic syndrome in mice lacking CD2-associated protein. Science. 1999; 286: 312-315.Kim J.M., Wu H., Green G. et al. CD2-associated protein haplo-insufficiency is linked to glomerular disease susceptibility. Science. 2003; 300: 1298-1300.Löwik M.M., Groenen P.J., Pronk I. et al. Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int. 2007; 72: 1198-1203.Kirsch K.H., Georgescu M.M., Ishimaru S., Hanafusa H. CMS: an adapter molecule involved in cytoskeletal rearrangements. Proc Natl Acad Sci U S A. 1999; 96: 6211-6216.Huber T.B., Kwoh C., Wu H. et al. Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin. J Clin Invest. 2006; 116: 1337-1345.Schwarz K., Simons M., Reiser J. et al. Podocin, a raft-associated component of the glomerular slit diaphragm interacts with CD2AP and nephrin. J Clin Invest. 2001; 108: 1621-1629.Little M., Wells C. A clinical overview of WT1 gene mutations. Hum Mutat. 1997; 9: 209-225.Haber D.A., Buckler A.J., Glaser T. et al. An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. Cell. 1990; 61: 1257-1269.McTaggart S.J., Algar E., Chow C.W. et al. Clinical spectrum of Denys-Drash and Frasier syndrome. Pediatr Nephrol. 2001; 16: 335-339.Игнатова М.С. Дизэмбриогенез органов мочевой системы и нефропатии. Клиническая нефрология. 2011; 4: 10-15.Чеботарева Н.В., Бобкова И.Н., Козловская Л.В., Ли О.А. Значение нарушений механизмов самозащиты почки при хроническом гломерулонефрите. Клиническая нефрология. 2011; 1: 8-14.Tipping P.G., Holdsworth S.R. Cytokines in glomerulonephritis. Semin Nephrol. 2007; 27(3): 275-285.Dimitrov S., Lange T., Fehm H.L., Born J. A regulatory role of prolactin, growth hormone, and corticosteroids for human T-cell production of cytokines. Brain Behav Immun. 2004; 18(4): 368-374.Tsujimura S, Tanaka Y. Treatment strategy based on targeting P-glycoprotein on peripheral lymphocytes in patients with systemic autoimmune disease. Clin Exp Nephrol. 2011 Aug 17. [Epub ahead of print].Jones G., Juszczak M, Kingdon E. et al. Treatment of idiopathic membranoproliferative glomerulonephritis with mycophenolate mofetil and steroids. Nephrology Dialysis Transplantation <http://ndt.oxfordjournals.org/>. 2004; 12: 3160-3164.Austin H.A., Illei G.G., Braun M.J., Balow J.E. Randomized, controlled trial of prednisone, cyclophosphamide and cyclosporine in lupus membranous nephropathy. J Am Soc Nephrol. 2009; 20(4): 901-911.Ruf R.G., Lichtenberger A., Karle S.M. et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol. 2004; 15:722-732.Denamur E., Bocquet N., Mougenot B. et al. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. J Am Soc Nephrol. 1999; 10:2219-2223.Craigen W.J. Mitochondrial DNA mutations: an overview of clinical and molecular aspects. Methods Mol Biol. 2012; 837: 3-15.Löwik M.M., Groenen P.J., Levtchenko E.N. et al. Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis-a review. Eur J Pediatr. 2009; 168:1291-1304.Wada T., Pippin J.W., Nangaku M. et al Dexamethasone's prosurvival benefits in podocytes require extracellular signalregulated kinase phosphorylation. Nephron Exp Nephrol. 2008; 109:e8-e19.Hsu H.H., Hoffmann S., Endlich N. et al. Mechanism of angiotensin signaling on cytoskeleton of podocytes. J Mol Med. 2007; 86:1379-1394.Wang L., Flannery P.J., Rosenberg P.B. et al. Gq-dependent signaling upregulates COX2 in glomerular podocytes. J Am Soc Nephrol. 2008; 19:2108-2118.Nakajo A., Khoshnoodi J., Takenaka H. et al. Mizoribine corrects defective nephrin biogenesis by restoring intracellular energy balance. J Am Soc Nephrol. 2007; 18:2554-2564.Faul C., Donelly M., Merscher-Gomez S. et al. The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A. Nature Medicine. 2008; 14: 931-938.Mathieson P.W. Proteinuria and immunity-an overstated relationship? N Engl J Med. 2008; 359: 2492-2494.