nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное общество10.28996/2618-9801-2023-3-434-441nid-126Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИCASE REPORTSГенетический фокальный сегментарный гломерулосклероз, диагностированный у взрослых. Клинические наблюденияGenetic focal segmental glomerulosclerosis with steroid-resistant nephrotic syndrome in adults. Case reportsЧеботареваН. В.ChebotarevaN. V.natasha_tcheb@mail.ruШерховаА. З.SherkhovaA. Z.adisasherkhova@mail.ruАндрееваЕ. Ю.AndreevaE. Yu.alena772004@mail.ruЧучинГ. К.ChuchinG. K.gchuchin@yandex.ruЛиО. А.LiO. A.shoa1978@bk.ruФГАОУ Первый Московский государственный медицинский университет имени И.М. Сеченова МЗ РФ (Сеченовский Университет)РоссияI.M. Sechenov First Moscow State Medical University (Sechenov University)Russian Federation202321062024253434441Copyright © Чеботарева Н.В., Шерхова А.З., Андреева Е.Ю., Чучин Г.К., Ли О.А., 20242024Чеботарева Н.В., Шерхова А.З., Андреева Е.Ю., Чучин Г.К., Ли О.А.Chebotareva N.V., Sherkhova A.Z., Andreeva E.Y., Chuchin G.K., Li O.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/126

Представлены два случая генетического ФСГС, ассоциированного с мутацией гена NPHS2 (подоцина) и COL4A3 (коллагена IV типа цепи альфа3). У пациента с мутацией гена NPHS2 отмечен ранний дебют заболевания почек в возрасте 3 лет с небольшой протеинурии 0,33 г/л и формированием нефротического синдрома (НС) в возрасте 13 лет. У пациентки с мутацией гена COL4A3 наблюдалось развитие НС в возрасте 23 лет. В обоих наблюдениях отсутствовал семейный анамнез, отмечалось развитие стероид-резистентного НС, у пациента с мутацией гена NPHS2 достигнута частичная ремиссия при назначении ингибиторов кальциневрина. В обсуждении клинических наблюдений приведены данные литературы по частоте известных в настоящее время мутаций генов, которые лежат в основе генетического ФСГС у взрослых. Показано, что в случаях моногенного ФСГС у взрослых наиболее частыми являются мутации генов COL4A3 (коллагена 4 типа) и NPHS2 (подоцина), на втором месте по частоте отмечают мутации различных генов подоцитарных белков, включая гены NPHS1 (нефрина), NPHS2 (подоцина), LMX1B (LIM homeobox транскрипционный фактор 1 бета), COQ8B (коэнзима Q8), IFN2 (инвертированного формина 2) и других. Приведены некоторые клинические особенности течения генетического ФСГС - время дебюта заболевания почек, наступления терминальной хронической болезни почек, возможные внепочечные проявления, а также случаи частичной ремиссии при лечении ингибиторами кальциневрина. Представленные в статье клинические наблюдения являются демонстрацией основных закономерностей, установленных в различных исследованиях при генетическом ФСГС у взрослых. В заключении обсуждаются основные подходы к лечению больных с генетической формой заболевания, а именно приоритет нефропротективной терапии. Таким образом, больных ФСГС со стероид-резистентным НС следует направлять на генетическое исследование, так как выявление генетической формы позволит избежать длительной иммуносупрессивной терапии и выбрать оптимальную схему и продолжительность лечения.

Two cases of genetic FSGS associated with mutations in the NPHS2 (podocin) and COL4A3 (collagen type IV alpha3 chain) genes are presented. A patient with a mutation in the NPHS2 gene had an early onset of kidney disease at the age of 3 years with a mild proteinuria of 0.33 g/l and a manifestation of nephrotic syndrome (NS) at the age of 13 years. A patient with a COL4A3 gene mutation developed NS at.age of 23 years. In both cases, there was no family history, the steroid-resistant NS was noted, and a patient with an NPHS2 gene mutation achieved partial remission with calcineurin inhibitor. The discussion provides literature data on the prevalence and currently known gene mutations that underlie genetic FSGS in adults. It has been shown that in cases of monogenic FSGS in adults, mutations of the COL4A3 (collagen type 4) and NPHS2 (podocin) genes are the most frequent, mutations of various podocyte protein genes, including the NPHS1 (nephrin), NPHS2 (podocin) genes, are in second place in frequency. LMX1B (LIM homeobox transcription factor 1 beta), COQ8B (coenzyme Q8), IFN2 (inverted formin 2), and others. Some features of the course of genetic FSGS, the time of manifestation of kidney disease, the end-stage.renal disease, possible extrarenal manifestations, as well as cases of partial remission in the treatment with calcineurin inhibitors are provided. The clinical cases presented demonstrate the main trends established in different studies of genetic FSGS in adults. The main directions of treatment of patients with a genetic form of the disease are discussed, for example, the priority of nephroprotective therapy. Thus, FSGS patients with steroid-resistant NS should be tested for mutations, since the identification of the genetic FSGS will allow avoiding long-term immunosuppressive therapy and choosing the optimal treatment strategy.

нефротический синдромфокальный сегментарный гломерулосклерозмутацииNPHS2COL4Aвзрослыеnephrotic syndromefocal segmental glomerulosclerosismutationsNPHS2COL4AadultsReferencesSambharia M., Rastogi P., Thomas C.P. Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease. Am J Med Genet C Semin Med Genet. 2022. 190(3):377-398. doi: 10.1002/ajmg.c.31990Sambharia M., Rastogi P., Thomas C.P. Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease. Am J Med Genet C Semin Med Genet. 2022. 190(3):377-398. doi: 10.1002/ajmg.c.31990Sadowski C.E., Lovric S., Ashraf S. et al. SRNS Study Group; Hildebrandt F. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015. 26(6):1279-89. doi: 10.1681/ASN.2014050489Sadowski C.E., Lovric S., Ashraf S. et al. SRNS Study Group; Hildebrandt F. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015. 26(6):1279-89. doi: 10.1681/ASN.2014050489Trautmann A., Schnaidt S., Lipska-Zietkiewicz B.S. et al. Long-term outcome of steroid-resistant nephrotic syndrome in children.J Am Soc Nephrol. 2017. 28(10):3055-65. doi:10.1681/ASN.2016101121Trautmann A., Schnaidt S., Lipska-Zietkiewicz B.S. et al. Long-term outcome of steroid-resistant nephrotic syndrome in children.J Am Soc Nephrol. 2017. 28(10):3055-65. doi:10.1681/ASN.2016101121Bierzynska A., McCarthy H.J., Soderquest K. et al. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney Int. 2017. 91(4):937-947. doi: 10.1016/j.kint.2016.10.013Bierzynska A., McCarthy H.J., Soderquest K. et al. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney Int. 2017. 91(4):937-947. doi: 10.1016/j.kint.2016.10.013Gast C., Pengelly R.J., Lyon M. et al. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2016. 31(6):961-70. doi: 10.1093/ndt/gfv325Gast C., Pengelly R.J., Lyon M. et al. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2016. 31(6):961-70. doi: 10.1093/ndt/gfv325Yao T., Udwan K., John R. et al. Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS. Clin J Am Soc Nephrol. 2019. 14(2):213-223. doi: 10.2215/CJN.08750718Yao T., Udwan K., John R. et al. Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS. Clin J Am Soc Nephrol. 2019. 14(2):213-223. doi: 10.2215/CJN.08750718Braunisch M.C., Riedhammer K.M. Herr P.M. et al. Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. Eur J Hum Genet. 2021. 29(2):262-270. doi: 10.1038/s41431-020-00719-3Braunisch M.C., Riedhammer K.M. Herr P.M. et al. Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. Eur J Hum Genet. 2021. 29(2):262-270. doi: 10.1038/s41431-020-00719-3De Vriese A.S., Sethi S., Nath K.A. et al. Differentiating Primary, Genetic, and Secondary FSGS in Adults: A Clinicopathologic Approach. J Am Soc Nephrol. 2018. 29(3):759-774. doi: 10.1681/ASN.2017090958De Vriese A.S., Sethi S., Nath K.A. et al. Differentiating Primary, Genetic, and Secondary FSGS in Adults: A Clinicopathologic Approach. J Am Soc Nephrol. 2018. 29(3):759-774. doi: 10.1681/ASN.2017090958Lepori N., Zand L., Sethi S. et al. Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. Clin Kidney J 2018. 11(2):179-190. doi: 10.1093/ckj/sfx143Lepori N., Zand L., Sethi S. et al. Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. Clin Kidney J 2018. 11(2):179-190. doi: 10.1093/ckj/sfx143Huber 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(24):3397-3405. doi:10.1093/hmg/ddg360Huber 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(24):3397-3405. doi:10.1093/hmg/ddg360Lu L., Wan H., Yin Y. et al. The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. Int Urol Nephrol. 2014. 46(7):1383-93. doi:10.1007/s11255-014-0676-3Lu L., Wan H., Yin Y. et al. The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. Int Urol Nephrol. 2014. 46(7):1383-93. doi:10.1007/s11255-014-0676-3Петросян Э.К., Шумилов П.В., Резников А.Ю. и соавт. Роль мутации гена подоцина NPHS2 в развитии стероидрезистентного нефротического синдрома у детей. Педиатрия им. Г.Н. Сперанского. 2014. 93 (2).Петросян Э.К., Шумилов П.В., Резников А.Ю. и соавт. Роль мутации гена подоцина NPHS2 в развитии стероидрезистентного нефротического синдрома у детей. Педиатрия им. Г.Н. Сперанского. 2014. 93 (2).Franceschini N., North K., Kopp J. et al. NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review. Genet Med. 2006. 8:63-75. doi:10.1097/01.gim.0000200947.09626.1cFranceschini N., North K., Kopp J. et al. NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review. Genet Med. 2006. 8:63-75. doi:10.1097/01.gim.0000200947.09626.1cSuh J.H., Miner J.H. The glomerular basement membrane as a barrier to albumin. Nat Rev Nephrol. 2013. 9(8):470-7. doi: 10.1038/nrneph.2013.109Suh J.H., Miner J.H. The glomerular basement membrane as a barrier to albumin. Nat Rev Nephrol. 2013. 9(8):470-7. doi: 10.1038/nrneph.2013.109Groopman E.E., Marasa M., Cameron-Christie S. et al. Diagnostic Utility of Exome Sequencing for Kidney Disease. N Engl J Med. 2019. 380:142-151, doi: 10.1056/NEJMoa1806891Groopman E.E., Marasa M., Cameron-Christie S. et al. Diagnostic Utility of Exome Sequencing for Kidney Disease. N Engl J Med. 2019. 380:142-151, doi: 10.1056/NEJMoa1806891Malone A.F., Phelan P.J. Hall G. et al. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int. 2014. 86(6):1253-9. doi: 10.1038/ki.2014.305Malone A.F., Phelan P.J. Hall G. et al. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int. 2014. 86(6):1253-9. doi: 10.1038/ki.2014.305Santín S., García-Maset R., Ruíz P. et al. FSGS Spanish Study Group. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int. 2009. 76(12):1268-76. doi: 10.1038/ki.2009.381Santín S., García-Maset R., Ruíz P. et al. FSGS Spanish Study Group. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int. 2009. 76(12):1268-76. doi: 10.1038/ki.2009.381He N., Zahirieh A., Mei Y. et al. Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2007. 2(1):31-7. doi: 10.2215/CJN.02690806He N., Zahirieh A., Mei Y. et al. Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2007. 2(1):31-7. doi: 10.2215/CJN.02690806Boyer O., Benoit G., Gribouval O. et al. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol. 2011. 22(2):239-45. doi: 10.1681/ASN.2010050518Boyer O., Benoit G., Gribouval O. et al. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol. 2011. 22(2):239-45. doi: 10.1681/ASN.2010050518Maeoka Y., Doi T., Aizawa M. et al. A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes. BMC Nephrol. 2020. 21(1):376. Published 2020 Aug 28. doi:10.1186/s12882-020-02040-zMaeoka Y., Doi T., Aizawa M. et al. A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes. BMC Nephrol. 2020. 21(1):376. Published 2020 Aug 28. doi:10.1186/s12882-020-02040-zBoyer O., Woerner S., Yang F., et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013. 24(8):1216-22. doi: 10.1681/ASN.2013020171Boyer O., Woerner S., Yang F., et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013. 24(8):1216-22. doi: 10.1681/ASN.2013020171Vollrath D., Jaramillo-Babb V.L., Clough M.V. et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet. 1998. 7(7):1091-8. doi: 10.1093/hmg/7.7.1091. Erratum in: Hum Mol Genet 1998 Aug;7(8):1333.Vollrath D., Jaramillo-Babb V.L., Clough M.V. et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet. 1998. 7(7):1091-8. doi: 10.1093/hmg/7.7.1091. Erratum in: Hum Mol Genet 1998 Aug;7(8):1333.Santin S., Ars E., Rossetti S. et al. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. Nephrol Dial Transplant 2009. 24: 3089-3096.Santin S., Ars E., Rossetti S. et al. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. Nephrol Dial Transplant 2009. 24: 3089-3096.Miao J., Pinto E., Vairo F. et al. Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection. Mayo Clin Proc. 2021. 96(9):2342-2353. doi: 10.1016/j.mayocp.2021.01.037Miao J., Pinto E., Vairo F. et al. Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection. Mayo Clin Proc. 2021. 96(9):2342-2353. doi: 10.1016/j.mayocp.2021.01.037Laurin L.P., Gasim A.M., Poulton C.J. et al. Treatment with Glucocorticoids or Calcineurin Inhibitors in Primary FSGS. Clin J Am Soc Nephrol. 2016. 11(3):386-94. doi: 10.2215/CJN.07110615Laurin L.P., Gasim A.M., Poulton C.J. et al. Treatment with Glucocorticoids or Calcineurin Inhibitors in Primary FSGS. Clin J Am Soc Nephrol. 2016. 11(3):386-94. doi: 10.2215/CJN.07110615Kemper M.J., Lemke A. Treatment of Genetic Forms of Nephrotic Syndrome. Front Pediatr. 2018. 6:72. doi: 10.3389/fped.2018.00072Kemper M.J., Lemke A. Treatment of Genetic Forms of Nephrotic Syndrome. Front Pediatr. 2018. 6:72. doi: 10.3389/fped.2018.00072Campbell K.N., Pennese N., Zaffalon A. et al. Efficacy and Safety of ACE Inhibitor and Angiotensin Receptor Blocker Therapies in Primary Focal Segmental Glomerulosclerosis Treatment: A Systematic Review and Meta-Analysis. Kidney Med. 2022. 4(5):100457. doi: 10.1016/j.xkme.2022.100457Campbell K.N., Pennese N., Zaffalon A. et al. Efficacy and Safety of ACE Inhibitor and Angiotensin Receptor Blocker Therapies in Primary Focal Segmental Glomerulosclerosis Treatment: A Systematic Review and Meta-Analysis. Kidney Med. 2022. 4(5):100457. doi: 10.1016/j.xkme.2022.100457Liu J., Cui J., Fang X. et al. Efficacy and Safety of Dapagliflozin in Children With Inherited Proteinuric Kidney Disease: A Pilot Study. Kidney Int Rep. 2021. 7(3):638-641. doi: 10.1016/j.ekir.2021.12.019Liu J., Cui J., Fang X. et al. Efficacy and Safety of Dapagliflozin in Children With Inherited Proteinuric Kidney Disease: A Pilot Study. Kidney Int Rep. 2021. 7(3):638-641. doi: 10.1016/j.ekir.2021.12.019Song Z.R., Li Y., Zhou X.J. et al. Efficacy of Dapagliflozin in Adult Autosomal Recessive Alport Syndrome. Kidney Int Rep. 2022. 7(9):2116-2117. doi: 10.1016/j.ekir.2022.06.017Song Z.R., Li Y., Zhou X.J. et al. Efficacy of Dapagliflozin in Adult Autosomal Recessive Alport Syndrome. Kidney Int Rep. 2022. 7(9):2116-2117. doi: 10.1016/j.ekir.2022.06.017Miyata K.N., Zhang S-L., Chan J.S.D. The Rationale and Evidence for SGLT2 Inhibitors as a Treatment for Nondiabetic Glomerular Disease. Glomerular Dis. 2021. 1:21-33. doi: 10.1159/000513659Miyata K.N., Zhang S-L., Chan J.S.D. The Rationale and Evidence for SGLT2 Inhibitors as a Treatment for Nondiabetic Glomerular Disease. Glomerular Dis. 2021. 1:21-33. doi: 10.1159/000513659Faul C., Donnelly M., Merscher-Gomez S. et al. The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A. Nat Med. 2008. 14(9):931-8.doi:10.1038/nm.1857Faul C., Donnelly M., Merscher-Gomez S. et al. The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A. Nat Med. 2008. 14(9):931-8.doi:10.1038/nm.1857Li R., Dong W., Chen Y. et al. Effect of cyclosporine A on focal segmental glomerulosclerosis caused by MYO1E mutation in a Chinese adult patient: A case report. Medicine (Baltimore). 2023. 102(4):e32683. doi:10.1097/MD.0000000000032683Li R., Dong W., Chen Y. et al. Effect of cyclosporine A on focal segmental glomerulosclerosis caused by MYO1E mutation in a Chinese adult patient: A case report. Medicine (Baltimore). 2023. 102(4):e32683. doi:10.1097/MD.0000000000032683Malakasioti G., Iancu D., Tullus K. Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review. Pediatr Nephrol. 2021. 36(6):1353-1364. doi: 10.1007/s00467-020-04695-0Malakasioti G., Iancu D., Tullus K. Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene mutations: a systematic review. Pediatr Nephrol. 2021. 36(6):1353-1364. doi: 10.1007/s00467-020-04695-0Büscher A.K., Beck B.B., Melk A. et al. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2016. 11(2):245-53. doi: 10.2215/CJN.07370715Büscher A.K., Beck B.B., Melk A. et al. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2016. 11(2):245-53. doi: 10.2215/CJN.07370715Gee H.Y., Ashraf S., Wan X. et al. Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014. 94(6):884-90. doi: 10.1016/j.ajhg.2014.04.010Gee H.Y., Ashraf S., Wan X. et al. Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014. 94(6):884-90. doi: 10.1016/j.ajhg.2014.04.010Hinkes 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(12):1397-1405. doi:10.1038/ng1918Hinkes 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(12):1397-1405. doi:10.1038/ng1918De Vriese A.S., Wetzels J.F., Glassock R.J. et al. Therapeutic trials in adult FSGS: lessons learned and the road forward. Nat Rev Nephrol. 2021. 17(9):619-630. doi:10.1038/s41581-021-00427-1De Vriese A.S., Wetzels J.F., Glassock R.J. et al. Therapeutic trials in adult FSGS: lessons learned and the road forward. Nat Rev Nephrol. 2021. 17(9):619-630. doi:10.1038/s41581-021-00427-1Rood I.M., Deegens J.K., Wetzels J.F. Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice. Nephrol Dial Transplant. 2012. 27(3):882-90. doi: 10.1093/ndt/gfr771Rood I.M., Deegens J.K., Wetzels J.F. Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice. Nephrol Dial Transplant. 2012. 27(3):882-90. doi: 10.1093/ndt/gfr771

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