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1Academic Journal
المؤلفون: Yuko Hamasaki, Riku Hamada, Masaki Muramatsu, Shinsuke Matsumoto, Kunihiko Aya, Kenji Ishikura, Tetsuji Kaneko, Kazumoto Iijima
المصدر: BMC Nephrology, Vol 21, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Congenital nephrotic syndrome, Complete remission, Extra-renal symptoms, End-stage kidney disease, Finnish-type disease, Infantile nephrotic syndrome, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Reynolds BC, Oswald RJA
المصدر: Pediatric Health, Medicine and Therapeutics, Vol Volume 10, Pp 157-167 (2019)
مصطلحات موضوعية: nephrectomy, genetics, infantile nephrotic syndrome, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://www.dovepress.com/diagnostic-and-management-challenges-in-congenital-nephrotic-syndrome-peer-reviewed-article-PHMT; https://doaj.org/toc/1179-9927
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3Academic Journal
المؤلفون: N. D. Savenkova, Н. Д. Савенкова
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 65, № 6 (2020); 12-21 ; Российский вестник перинатологии и педиатрии; Том 65, № 6 (2020); 12-21 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2020-65-6
مصطلحات موضوعية: стратегия ведения, congenital and infantile nephrotic syndrome, genotype-phenotype correlations, isolated and syndromic forms, strategy management, врожденный и инфантильный нефротический синдром, генотип-фенотип корреляции, изолированные и синдромальныe формы
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/1285/1018; Jalanko H., Holmberg C. Congenital Nephrotic Syndrome. In: Pediatric Nephrology. E.D. Avner, W.E. Harmon, P. Niaudet, N. Yoshikawa, F. Emma, S.L. Goldstein (eds). Springer-Verlag, Berlin Heidelberg, 2016; 1: 753–769. DOI:10.1007/978-3-662-43596-0-78; Preston R., Stuart H.M., Lennon R. Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? Pediatr Nephrol 2019; 34(2): 195–210. DOI:10.1007/s00467-017-3838-6; Online Mendelian Inheritance in Man: An online catalog of human genes and genetic disorders Electronic resours. https://omim.org. Ссылка активна на 02.07.2020.; Boyer О., Tory K., Machuca E., Antignac С. Idiopathic Nephrotic Syndrome in Children: Genetic Aspects. In: Pediatric Nephrology. E.D. Avner, W.E. Harmon, P. Niaudet, N. Yoshikawa, F. Emma, S.L. Goldstein (eds). Springer-Verlag, Berlin Heidelberg, 2016; 1: 805–837. DOI:10.1007/978-3-662-43596-0-23; Weber S. Hereditary Nephrotic Syndrome. In: Pediatric Kidney Disease. D.F. Geary, F. Schaefer (eds). Springer-Verlag, Berlin, Heidelberg, 2016; 17. DOI:10.1007/978-3-662-52972-0-17; Kestilla M., Lenkkeri U., Mannikko M., Lamerdin J., McCready P. et al. Positionally cloned gene for a novel glomerular protein nephrin – is mutated in congenital nephrotic syndrome. Mol Cell 1998;1 (4): 575–582.; Jalanko Н., Holmberg C. Congenital nephrotic syndrome. Pediatric Nephrology. In: E.D. Avner, W.E. Harmon, P. Niaudet, N. Yoshikawa (eds). Springer, 2009; 1: 601–619.; Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol 2009; 24: 2121–2128. DOI:10.1007/s00467-007-0633-9; Kari J., Montini G., Bokenhauer D., Brennan E., Rees L., Trompeter R.S. et al. Clinico-patological correlations of congenital and infantile nephrotic syndrome. Pediatr Nephrol 2014; 29(11): 2173–2180. DOI:10.1007/s00467-014-2856-x; Trautmann A., Bodria M., Ozaltin F., Gheisari A., Melk A. Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort. Clin J Am Soc Nephrol 2015; 10(4): 592–600. DOI:10.2215/CJN.06260614; Brady T., Mitra A., Hooks J. Maternal serum alpha-fetoprotein level peak at 19–21weeks gestation and subsequently decline in a NPHS1 sequence variant heterozygote; implications for prenatal diagnosis of congenital nephrosis the of Finnish type. Prenat Diagn 2014; 34: 1–3. DOI:10.1002/pd.4375; Gbadegesin R., Hinkes B., Hoskins B. Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis. Nephrol Dial Transplant 2008; 23(4): 1291–1297. DOI:10.1093/ndt/gfm759; Cil O., Besbas N., Duzova A., Topaloglu R., Peco-Antic A., Korkmaz E., Ozaltin F. Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. Pediatr Nephrol 2015; 30: 1279–1287. DOI:10.1007/s00467-015-3058-х; Li G.M., Cao Q., Shen Q., Sun L., Zhai Y.H. Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. BMC Nephrol 2018; 1: 382. DOI:10.1186/s12882-018-1184-y; Boyer O., Woerner S., Yang F., Oakeley E., Linghu B. et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol 2013; 24:1216–1222. DOI:10.1681/ASN.2013020171; Harita Y., Kitanaka S., Isojima T., Ashida A., Hattori M. Spectrum of LMX1B mutations: from Nail-Patella syndrome to isolated nephropathy. Pediatr Nephrol 2017; 32(10): 1845–1850. DOI:10.1007/s00467-016-3462-x; Andeen N.K., Schleit J., Blosser C.D., Dorschner M.O., Hisama F.M., Smith K.D. LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes. Am J Kidney Dis 2018; 72(2): 296– 301. DOI:10.1053/j.ajkd.2017.09.02318; Ebarasi L., Ashraf S., Bierzynska A., Gee H.Y., McCarthy H. J., Lovric S., Sadowski C.E. Defects of CRB2 cause steroid-resistaant nephritic syndrome. Am J Hum Genet 2015; 96 (1): 153–161. DOI:10.1016/j.ajhg.2014.11.014.; Dorval G., Kuzmuk V., Gribouval O. TBC1D8B loss-of-function mutations lead to X-linked nephrotic syndrome via defective trafficking pathways. Am J Hum Genet 2019; 104(2): 348–355. DOI:10.1016/j.ajhg.2018.12.016.; Denys P., Malvaux P., Van den Berghe H. Assotion d’un syndrome anatomo-pathologique depseudo hermaphroditisme masculine, d’une tumeur de Wilms, d’une nephropathie parynchymateuse et d’une mosaicisme XX/XY. Arch Fr Pediatr 1967; 24: 729–731.; Drash A., Sherman F., Hartmann W.H., Blizzard R.M. A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediatr 1970; 76(4): 585–593.; Habib R., Gubler M., Antignac C. Syndrome nephrotique congenital ou infantile avec sclerose mesangiale diffuse. Ann Pediatr 1990; 37(2): 73–77.; Nishi K., Nishi K., Inoguchi T., Kamei K., Hamada R., Hataya H., Ogura M. et al. Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. Clin Exp Nephrol 2019; 23(8): 1058–1065. DOI:10.1007/s10157-019-01732-7; Савенкова Н.Д., Папаян А.В. Врожденный и инфантильный нефротический синдром. В кн.: Клиническая нефрология детского возраста. А.В. Папаян, Н.Д. Савенкова (ред.). С-Пб: Левша, 2008; 252–258. [Savenkova N.D., Papayan A.V. Congenital and infantile nephrotic syndrome. In: Clinical nephrology of childhood. A.V. Papayan, N.D. Savenkova (eds). St-P: Levcha, 2008; 252–258. (In Russ.)]; Савенкова Н.Д., Чахалян М.И. Клинико-генетическиe особенности и стратегия терапии наследственного врожденного и инфантильного нефротического синдрома у детей. Нефрология 2019; 23(5): 17–28. [Savenkova N.D., Chakhalian M.I. Clinical-genetic features and strategy treatment Hereditary Congenital and Infantile Nephrotic Syndrome in Children. Nefrologiya 2019; 23(5): 17–28. DOI:10.24884/1561-6274-2019-23-5-17-28. (in Russ.)]; Приходина Л.C., Папиж С.В., Столяревич Е.С., Повилайтите П.Е., Шаталов П.А. Инфантильный нефротический синдром: клинико-морфологическая характеристика, генетическая гетерогенность, исходы. Опыт одного центра. Нефрология и диализ 2019; 21(2): 234–242. [Prihodina L.S., Papizh S.V., Stolyarevich E.S., Povilaitite P.E., Shatalov P.A. Infantile nephrotic syndrome: сliniсal-pathology features, genetic heterogeneity, outcome. Nefrologiya i Dialis 2019;21(2):234–242. DOI:10.28996/2618-9801-2019-2-342-242. (in Russ.)]; Игнатова М.С., Длин В.В. Роль генетики в развитиии детской нефрологии. Российский вестник перинатологии и педиатрии 2015; 60(3): 6–9. [Ignatova M.S., Dlin V.V. Role of genetics in the development of of pediatric nephrology. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 2015; 60(3): 6–9. (in Russ.)]; Van De Voorde R., Witte D., Kogan J., Goebel J. Pierson syndrome: a novel cause of congenital nephrotic syndrome. Pediatrics 2006; 118(2): 501–505. DOI:10.1542/peds.2005-3154; Savenkova N., Leviashvili Z., Snezhkova E., Karpova T. Nephropathy with proteinuria, hematuria, pretibial epidermolisis bullosa and neurosensory deafness by mutations CD151 gene in sibs. Pediatr Nephrol 2019; 34(10): 1927–1928. DOI:10.1007/s00467-019-04325-4; Colin E., Cong E.H., Mollet G., Guichet A., Gribouval O., Arrondel C., Boyer O. et al. Loss-of-function mutations in WDR 73 are responsible for microcephaly and steroid resistant nephrotic syndrome: Galloway-Mowat syndrome. Am J Hum Genet 2014;95(6):637–648. DOI:10.1016/j.ajhg.2014.10.011; Hyun H.S., Kim S.H., Park E., Cho M.H., Kang H.G. et al. A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. BMC Med Genet 2018; 19(1): 131. DOI:10.1186/s12881-018-0649-y; Ghoumid J., Petit F., Holder-Espinasse M., Jourdain A.-S., Guerra J., Dieux-Coeslier A. et al. Nail-Patella syndrome: clinical and molecular data in 55 families raisinf the hypothetsis of a genetic heterogeneity. Eur J Hum Genet 2016; 24(1): 44–50. DOI:10.1038/ejhg.2015.77; Janecke A.R., Xu R., Steichen-Gersdorf E., Waldegger S., Entenmann A., Giner T. et al. Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. Hum Mutat 2017; 38(4): 365–372. DOI:10.1002/humu.23192; Lovric S., Goncalves S., Gee, H.Y., Oskouian B., Srinivas H., Choi W.-I. et al. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 2017; 127: 912–928. DOI:10.1172/JCI89626; Prasad R., Hadjidemetriou I., Maharaj A., Meimaridou E., Buonocore F., Saleem M. et al. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. J Clin Invest 2017; 127: 942–953. DOI:10.1172/JCI90171; Carney E.F. Genetics: SGPL1 mutations cause a novel SRNS syndrome. Nat Rev Nephrol 2017; 13(4): 191. DOI:10.1038/nrneph.2017.19; Reynods B.C., Pikles C.W., Lambert H.J., Ognjanovic M., Crosier J., Johnson S.A., Tse Y. Dominiciliary administration of intravenous albumin in congenital nephrotic syndrome. Pediatr Nephrol 2015; 30: 2045–2050. DOI:10.1007/s00467-015-3177-4; Dufek S., Holtta T., Trautmann, Ylinen A., Alpay H., Ariceta G .et al. and ESPN Dialysis Working Group. Management of children with congenital nephrotic syndrome: challenging treatment paradigms. Nephrol Dial Transplant 2019; 34(8): 1369–1377. DOI:10.1093/ndt/gfy165; Lau K.K., Chan H.H., Massicotte P., Chan A.K. Thrombotic complications of neonates and children with congenital nephrotic syndrome. Curr Pediatr Rev 2014; 10(3): 169–176. DOI:10.1007/573396309666131209210310; Hamasaki Y., Muramatsu M., Hamada R., Ishikura K., Hataya H., Satou H. et al. Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan. Clin Exp Nephrol 2018; 22(3): 719–726. DOI:10.1007/s10157-017-1508-4; Holmberg C., Jalanko H. Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. Pediatr Nephrol 2014; 29: 2309–2317. DOI:10.1007/s00467-014-2781-z; Graves R.C., Fine R.N. Kidney retransplantation in children following rejection and recurrent disease. Pediatr Nephrol 2016; 31(12): 2235–2247. DOI:10.1007/s00467-016-3346-0; Hölttä T., Bonthuis M., Hölttä T., Bonthuis M., Van Stralen K.J., Bjerre A. et al. Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry. Pediatr Nephrol 2016; 31(12): 2317–2325. DOI: org/10.1007/s00467-016-3517-z; Ashoor I.F., Dharnidharka V.R. Non-Immunologic allograft loss in pediatric kidney transplant recipients. Pediatr Nephrol 2019; 34: 211–222. DOI:10.1007/s00467-018-3908-4; Постановление правительства Российской Федерации от 10 декабря 2018 года №1506 «О Программе государственных гарантий бесплатного оказания гражданам медицинской помощи на 2019 год и на плановый период 2020 и 2021 годов». https://www.garant.ru/products/ipo/prime/doc/72023058/. [Decree of the Government of the Russian Federation of December 10, 2018 No. 1506 «On the Program of State Guarantees of Free Provision of Medical Care to Citizens for 2019 and for the Planning Period of 2020 and 2021» https://www.garant.ru/products/ipo/prime/doc/72023058. (in Russ.)]; https://www.ped-perinatology.ru/jour/article/view/1285
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4Academic Journal
المؤلفون: Cornel Aldea, Teodora Munteanu, Dan Delean, Bogdan Bulata, Adriana Bungardi, Sorin Man, Mihai Gafencu, Carmen Duicu
المصدر: Romanian Journal of Pediatrics, Vol 67, Iss 1, Pp 9-12 (2018)
مصطلحات موضوعية: infantile nephrotic syndrome, genetic basis, genetic podocytopathies, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Hiroki Kurahashi, Katsuyuki Yokoi, Naonori Kumagai, Takema Kato, Tetsuya Ito, Tomomi Kondoh, Yohei Ikezumi, Yoko Nakajima, Yuji Matsumoto
المصدر: The Tohoku Journal of Experimental Medicine. 2022, 258(3):183
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6Academic Journal
المؤلفون: Mir, Sevgi, Yilmaz, Ebru, Dincel, Nida, Bulut, Ipek Kaplan, Berdeli, Afig
مصطلحات موضوعية: Infants, Infantile Nephrotic Syndrome, Genetics
Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Iranian Journal of Pediatrics; https://hdl.handle.net/11454/29064; https://doi.org/10.5812/ijp.68933; 29
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7Academic Journal
المؤلفون: Muhammed Mubarak, Ali Lanewala, Seema Hashmi
المصدر: Journal of Nephropathology, Vol 4, Iss 3, Pp 101-104 (2015)
مصطلحات موضوعية: infantile nephrotic syndrome, galloway-mowat syndrome, diffuse mesangial sclerosis, Pathology, RB1-214, Internal medicine, RC31-1245, Other systems of medicine, RZ201-999
وصف الملف: electronic resource
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8Academic Journal
المؤلفون: M. S. Ignatova, V. V. Dlin, М. С. Игнатова, В. В. Длин
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 62, № 6 (2017); 29-44 ; Российский вестник перинатологии и педиатрии; Том 62, № 6 (2017); 29-44 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2017-62-6
مصطلحات موضوعية: моноклональные антитела, nephrotic syndrome, congenital and infantile nephrotic syndrome, selective immunosuppressants, monoclonal antibodies, нефротический синдром, врожденный и инфантильный нефротический синдром, селективные иммуносупрессанты
وصف الملف: application/pdf
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Nephrotic syndrome. In: Children’s Nephrology. E. Lojmann, A.N. Zygin, A.A. Sarkisyan (eds). M: “Literra” 2010; 123–140. (in Russ)]; Серов В.В., Варшавский В.А. Что называть гломерулонефритом: спорные вопросы классификации. Архив патологии 1987; 1: 67–82. [Serov V.V., Varshavsky V.A. What is called glomerulonephritis: a controversial classification issues. Аrkhiv patologii 1987; 1: 67–82. (in Russ)]; Broyer M., Meyrier A., Niaudet P, Habib R. Мinimal changes and focal segmental glomerular sclerosis. Oxford textbook of clinical nephrology, 2-nd ed. A. Davison, S. Cameron, J-P. Grunftld (eds). Oxford, New-York, Tokio: Oxford medical press, 1998; 493–523.; Cameron S. Historical perspective. In: The Nephrotic syndrome. S. Cameron, R. Glassock, M. Dekker (eds). New York, Basel, 1988; 3–56.; Матвеев М.П. Нефротический синдром у детей. М, 1975; 25. [Matveev M.P. Nephrotic syndrome in children. Moscow, 1975; 25. (in Russ)]; Rheault M., Gbadegesin R. The Genetics of Nephrotic Syndrome. J Pediatr Genet 2016; 5 (1): 15–24. DOI:10.1055/s0035-1557109; Jalanko H. Pathogenesis of proteinuria: lessons learned from nephrin and podocin. Pediatr Nephrol 2003; 18: 487–491.; Kaplan J.M., Kim S.H., North K.N., Rennke H., Correia L.A., Tong H.Q. et al. Mutation in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genetic 2000; 24: 251–256.; Wang J.-J., Mao J.-H. The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr 2016; 12 (2): 149–158. DOI:10.1007/s12519-016-0009-y.; Hallman N., Hjelt L., Abvenainen E.K. Nephrotic syndrome in newborn and young infants. Ann Pediatr Fenn 1956; 2: 227–241.; Kestila M., Lenkkeri U., Mannikko M. Positionally cloned gene for a njval glomerular protein – nephrinis mutated in congenital nephritic syndrome. Mol Cell 1998; 1: 575–582.; Fuchshuber A., Niaudet P., Gribouval O., Jean G., Gubler M.C., Broyer M., Antignac C. Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population. Pediatr Nephrol 1996; 10: 135138.; Patrakka J., Kestila M., Wartovaara J., Ruotsalainen V., Tissari P., Lenkkeri U. et al. Congenital nephrotic syndrome (NPHS1): Feature resulting from different mutation in Finnish patients. Kidney Int 2000; 58:972–980.; Vats A., Costello B., Mauer M. Glomerular structural factors in progression of congenital nephrоtic syndrome. Pediatr Nephrol 2003; 18: 234–240.; Prikhodina L., Poltavets N., Galeeva N., Zaklyazminskaya E., Dlin V. Podocin gene (NPHS2) mutations in children with sporadic steroid-resistant nephrоtic syndrome. Pediatr Nephrol 2007; 22 (9): 1486.; Schwarz K., Simons M., Reiser J., Saleem M.A., Faul C., Kriz W. et al. Podocin, a raft-associated component of glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 2001; 108: 1621–1629. DOI:10.1172/JCI12849; Huber T.B., Simons M., Hartleben B., Sernetz L., Schmidts M., Gundlach E. et al. Molecular basis of the functional podocinnephrin complex: mutation in the NPHS2 gene disrupt nephrin targeting to the lipid raft microdomains. Hum Mol Genet 2003; 12:3397–3405. DOI:10.1093/hmg/ddg360; Pereira A.C., Pereira AB., Mota G.F., Cunha R.S., Herkenhoff F.L., Pollak M.R. et al. NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. Kidney Int 2004; 65:1026–1030. DOI:10.1111/j.15231755.2004.00479.x; Caridi G., Bertelli R., Carrea A. Prevalence, genetics, and clinical features of patients carring podocin mutations in steroidresistant nonfamilial focal segmental glomeruloscerosis. J Am Soc Nephrol 2001; 12: 2742–2746.; Ruf R.G., Lichtenberger A., Karle S.M., Haas J.P., Anacleto F.E., Schultheiss M. et al. Patients with mutation in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004; 15: 722–732.; Koziell A., Grech V., Hussain S., Lee G., Lenkkeri U., Tryggvason K., Scambler P. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 2002; 11: 379–388.; Pohl M., Bhatnagar V., Mendoza S.A., Nigam S.K. Toward an etiological classification of developmental disorders of the kidney and upper urinary tract. Kidney Int 2002; 61: 10–19.; Шатохина О.В., Игнатова М.С., Османов И.М. Клинический полиморфизм и генетическая характеристика синдромов Дениса–Драша и Фрайзера. Нефрология и диализ 2004; 6: 337–343. [Shatokhina O.V., Ignatova M.S., Osmanov I.M. Clinical polymorphism and genetic characteristics of syndromes Denys-Drash and Fraiser. Nefrologiya i dializ 2004; 6: 337–343. (in Russ)]; Ruf R., Schultheiss M., Lichtenbrger A., Karle S.M., Zalewski I., Mucha B. et al. Prevalence of WT1 mutation in a large cohort of patients with steroid-resistant and steroid-sensitive nephrоtic syndrome. Kidney Int 2004; 66: 564–570.; Schumacher V., Scharer K., Wubl E., Altrogge H., Bonzel K.E., Guschmann M. et al. Spectrum of early onset nephrоtic syndrome associated with WT1 missence mutations. Kidney Int 1998; 53: 1594–1600.; Lahdenkari A-T., Kestila M., Holmberg Ch. Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int 2004; 65: 1856–1863.; Cao Q., Li GM., Xu H. Coenzyme Q (10) treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review. Zhonghua Er Ke Za Zhi 2017; 55 (2): 135–138. DOI:10.3760/cma.j.issn.0578-1310.2017.02.016.; Длин В.В., Асратян А.А., Рейзис А.Р. Частота маркеров НВ-вирусной инфекции у больных с нефротическим синдромом. Педиатрия 1991; 7: 24–27. [Dlin V.V., Asratyan A.A., Reyzis A.R. Frequency of markers of HB virus infection in patients with nephrotic syndrome. 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Pediatr Nephrol 2006; 21: 973–980. DOI:10.1007/s00467-006-0100-z; Игнатова М.С., Вельтищев Ю.Е. Детская нефрология. Руководство для врачей. Л: Медицина 1989; 455. [Ignatova M.S., Veltischev Yu.E. Pediatric Nephrology. Guide for physicians. L: Meditsina 1989; 455. (in Russ)]; Папиж С.В., Фокеева Е.В., Ружицкая Е.А. Применение иммуномодулирующего препарата левамизола в лечении гормонозависимого и часторецидивирующего нефротического синдрома при первичном гломерулонефрите у детей. Нефрология и диализ 2004; 6 (1): 58–61. [Papizh S.V., Fokeeva E.V., Ruozyckaya E.A. The use of immunomodulating drug levamisole in the treatment of hormone-dependent and frequently relapsing nephrotic syndrome in primary glomerulonephritis in children. Nefrologiya i dializ 2004; 6 (1): 58–61. (in Russ)]; Martinelli R., Okumura A.S., Pereira L.J., Rocha H. Primary focal segmental glomerulosclerosis in children: prognostic factors. Pediatr Nephrol 2001; 16: 656–661.; Игнатова М.С., Москалева Е.С., Харина Е.А. 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Dordrecht.: Kluwer Academic, 1989; 155–168.; Игнатова М.С., Харина Е.А., Курбанова Э.Г. Эффективность Сандиммун-Неорала при нефротическом синдроме у детей России и Казахстана, по данным многоцентрового контролируемого исследования. Педиатрия 2001; 6: 90–94. [Ignatova M.S., Kharina E.A., Kurbanova E.G. The efficacy of Sandimmun-Neoral nephrotic syndrome in children of Russia and Kazakhstan, according to a multicenter controlled study. Pediatriya 2001; 6: 90–94. (in Russ)]; Eugui E.M., Amquist S.J., Miller C.D., Allison A.C. Lymphocytoselective citostatic and immunosuppressive effects of mycophenolic acid in vitro: role of deoxyguanosine nucleotide depletion. Scand J Immunol 1991; 33: 161–173.; Senda M., DeLustro B., Eugui E., Natsumeda Y. Mycophenolatic acid, an ingibitor of IMP dehydrogenase that is also on immunosuppressive agent, suppresses the cytocine-induced nitric acid production in mouse and rat vascular endothelial cells. Transplantation 1995; 60: 1143–1148.; Fu Y.F., Liu G.l. Mycophenolate Mofetil Therapy for children with lupus nephritis refractory to both intravenous cyclophosphomide and cyclosporine. Clin Nephrol 2001; 55: 318–321.; Ulinski T., Ranchin B., Said M-H. Switch from cyclosporine A (CyA) to mycophenolate mofetil improves kidney function in children with nephrotic syndrome and CyAinduced nephrotoxicity. Nephrology Dialis Transplantation 2003; 18 (Suppl 4): 261.; Матвеева М.В., Зробок О.И., Вашурина Т.В., Мазо А.М., Дмитриенко С.В., Леонова Л.В., Цыгин А.Н. Оценка эффективности такролимуса у детей с нефротическим синдромом, рефрактерным к терапии циклоспорином А. Педиатрия 2014; 93 (2): 81–85. [Matveeva M.V., Zrobok O.I., Vashurina T.V., Mazo А.M., Dmitrienko S.V., Leonova L.V., Tsygin А.N. Evaluation of the effectiveness of tacrolimus in children with nephrotic syndrome refractory to therapy with cyclosporine A. Pediatriya 2014; 93 (2): 81–85. (in Russ)]; Вашурина Т.В., Зробок О.И., Комарова О.В. 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DOI:10.1007/s00467-017-3621-8; https://www.ped-perinatology.ru/jour/article/view/588
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9Academic Journal
المؤلفون: Guido Monga, Lorenzo Daniele, Gianna Mazzucco
المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 3, Iss 2, Pp e030241-e030241 (2014)
مصطلحات موضوعية: congenital nephrotic syndrome, infantile nephrotic syndrome, nephrotic syndrome of the finnish type, diffuse mesangial sclerosis, focal-segmental glomerulosclerosis, membranous glomerulonephritis, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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10
المؤلفون: Anju Jacob, Shameer M. Habeeb, Leal Herlitz, Eva Simkova, Jwan F. Shekhy, Alan Taylor, Walid Abuhammour, Ahmad Abou Tayoun, Martin Bitzan
المصدر: Frontiers in Pediatrics, Vol 8 (2020)
Frontiers in Pediatricsمصطلحات موضوعية: Pathology, medicine.medical_specialty, Fulminant, NPHS1, 030232 urology & nephrology, Oligohydramnios, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Biopsy, medicine, case report, 030212 general & internal medicine, Congenital nephrotic syndrome, cytomegalovirus, Proteinuria, medicine.diagnostic_test, business.industry, lcsh:RJ1-570, Glomerulonephritis, lcsh:Pediatrics, medicine.disease, Finnish-type nephrotic syndrome, infantile nephrotic syndrome, Streptococcus pneumoniae, Pediatrics, Perinatology and Child Health, medicine.symptom, Literature survey, business, Nephrotic syndrome, glomerulonephritis
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11
المؤلفون: Shinsuke Matsumoto, Kazumoto Iijima, Masaki Muramatsu, Yuko Hamasaki, Kenji Ishikura, Riku Hamada, Kunihiko Aya, Tetsuji Kaneko
المصدر: BMC Nephrology, Vol 21, Iss 1, Pp 1-8 (2020)
BMC Nephrologyمصطلحات موضوعية: Male, Nephrology, Finnish-type disease, Nephrotic Syndrome, Placenta, medicine.medical_treatment, 030232 urology & nephrology, Kaplan-Meier Estimate, Disease, 030204 cardiovascular system & hematology, lcsh:RC870-923, Nephrectomy, 0302 clinical medicine, Japan, Pregnancy, Pupil Disorders, Surveys and Questionnaires, Epidemiology, Complete remission, Child, Survey, Congenital nephrotic syndrome, End-stage kidney disease, Organ Size, Syndrome, Denys-Drash Syndrome, Renal Replacement Therapy, Child, Preschool, Disease Progression, Female, Immunosuppressive Agents, Research Article, medicine.medical_specialty, Adolescent, Extra-renal symptoms, Peritoneal dialysis, 03 medical and health sciences, Intellectual Disability, Internal medicine, medicine, Humans, Genetic Testing, Renal replacement therapy, Glucocorticoids, Myasthenic Syndromes, Congenital, business.industry, Infant, Newborn, Infant, medicine.disease, Infantile nephrotic syndrome, lcsh:Diseases of the genitourinary system. Urology, Kidney Failure, Chronic, business, Nephrotic syndrome, Kidney disease
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12
المؤلفون: Anju Jacob, Shameer M. Habeeb, Leal Herlitz, Eva Simkova, Jwan F. Shekhy, Alan Taylor, Walid Abuhammour, Ahmad Abou Tayoun, Martin Bitzan
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, Finnish-type nephrotic syndrome, NPHS1, cytomegalovirus, Streptococcus pneumoniae, case report, glomerulonephritis, infantile nephrotic syndrome
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13
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14Academic Journal
المؤلفون: Hirokazu Ikeda, Keiichi Isoyama, Koichi Kamei, Mai Sato, Masaki Fuyama, Masao Ogura, Shuichi Ito, Takahiro Nishioka, Tsuneki Watanabe, 亀井 宏一, 伊藤 秀一, 佐藤 舞, 小椋 雅夫, 布山 正貴, 池田 裕一, 渡邊 常樹, 磯山 恵一, 西岡 貴弘
المصدر: 日本小児腎臓病学会雑誌 / Japanese journal of pediatric nephrology. 2014, 27(1):30
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15
المؤلفون: Mubarak, Muhammed, Lanewala, Ali, Hashmi, Seema
المصدر: Journal of Nephropathology
مصطلحات موضوعية: diffuse mesangial sclerosis, Infantile nephrotic syndrome, Nephropathology Quiz, Galloway-Mowat syndrome
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16
المؤلفون: Nicholas Lench, Richard S. Trompeter, Jameela A. Kari, William van’t Hoff, Emma Ashton, Eileen Brennan, Aoife M. Waters, Kjell Tullus, Lesley Rees, Stephen D. Marks, Neil J. Sebire, Detlef Bockenhauer, Giovanni Montini
المصدر: Pediatric Nephrology (Berlin, Germany)
مصطلحات موضوعية: Male, Nephrology, medicine.medical_specialty, Pediatrics, Pathology, Nephrotic Syndrome, Adolescent, Biopsy, medicine.medical_treatment, Histopathology, Kidney, Nephrectomy, Membranous nephropathy, Internal medicine, Genetics, medicine, Humans, Minimal change disease, Pediatrics, Perinatology, and Child Health, Renal replacement therapy, Age of Onset, Child, Congenital nephrotic syndrome, Retrospective Studies, Outcome, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Infantile nephrotic syndrome, medicine.disease, Treatment Outcome, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Disease Progression, Kidney Failure, Chronic, Female, Original Article, Renal biopsy, business, Nephrotic syndrome, Immunosuppressive Agents, Follow-Up Studies, Kidney disease