nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-1958Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESКлинический полиморфизм и генетическая характеристика синдромов Дениса-Драша и ФрайзераClinical polymorphism and genetic characteristic of Denys-Drash and Frasier syndromesШатохинаО. В.ShatokhinaO. V.noemail@neicon.ruИгнатоваМ. С.IgnatovaM. S.nephrolog@pedklin.ruОсмановИ. М.OsmanovI. M.noemail@neicon.ruКармановМ. Е.KarmanovM. E.noemail@neicon.ruНевструеваВ. В.NevstruevaV. V.noemail@neicon.ruБерешеваА. К.BereshevaA. K.noemail@neicon.ruВасильевЕ. В.Vasil’EvE. V.noemail@neicon.ruМелехинаЕ. В.MelekhinaE. V.noemail@neicon.ruФокееваЕ. В.FokeevaE. V.noemail@neicon.ruТурпиткоО. Ю.TurpitkoO. J.noemail@neicon.ruКатышеваО. В.KatyshevaO. V.noemail@neicon.ruРоссийский государственный медицинский университет, Московский НИИП и ДХ МЗ РФ, Республиканская детская клиническая больница, Медико-генетический научный центр РАМН, г. МоскваRussian Federation20042706202564336343Copyright © Шатохина О.В., Игнатова М.С., Османов И.М., Карманов М.Е., Невструева В.В., Берешева А.К., Васильев Е.В., Мелехина Е.В., Фокеева Е.В., Турпитко О.Ю., Катышева О.В., 20252025Шатохина О.В., Игнатова М.С., Османов И.М., Карманов М.Е., Невструева В.В., Берешева А.К., Васильев Е.В., Мелехина Е.В., Фокеева Е.В., Турпитко О.Ю., Катышева О.В.Shatokhina O.V., Ignatova M.S., Osmanov I.M., Karmanov M.E., Nevstrueva V.V., Beresheva A.K., Vasil’Ev E.V., Melekhina E.V., Fokeeva E.V., Turpitko O.J., Katysheva O.V.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/1958

Синдромы Дениса-Драша и Фрайзера характеризует ранний дебют нефротического синдрома у детей с мужским псевдогермафродитизмом и мутацией в гене WT1 (ген опухоли Вильмса). У половины больных при синдроме Дениса-Драша имеет место опухоль Вильмса. Все пациенты приходят к хронической почечной недостаточности. В терапии нефротического синдрома следует избегать стероидной и цитостатической терапии. В статье представлен полиморфизм клинической картины и генетическая характеристика синдромов Дениса-Драша и Фрайзера, предложены критерии диагностики и оптимальной тактики лечения.

The Denys-Drash and Frasier syndrome are primary genetic diseases with an early debut of the nephrotic syndrome in children with male pseudohermaphroditism and a mutation in gene WT1 (a gene of Wilms’tumour). A half of patients with the Denys-Drash syndrome has a Wilms tumour. All patients develop chronic renal failure. The therapy of nephrotic syndrome should eliminate steroid and cytostatic therapy. Polymorphism of clinical features and the genetic characteristic of the Denys-Drash and Frasier syndromes is presented, criteria of diagnostics and optimal tactic of treatment are offered.

нефротический синдромгормонорезистентный мужской псевдогермафродитизмдисгенезия гонад11-я хромосомаWT146XYсиндром Дениса-Драшасиндром ФрайзераReferencesИгнатова М.С., Курбанова Э.Г. Нефротический синдром при гломерулонефрите. В кн.: Иммуносупрессивная терапия нефротического синдрома у детей. М.: Novartis, 2000: 10-11.Игнатова М.С., Курбанова Э.Г. Нефротический синдром при гломерулонефрите. В кн.: Иммуносупрессивная терапия нефротического синдрома у детей. М.: Novartis, 2000: 10-11.Armstrong J.F., Pritchard-Jones K., Bickmore W.A., Hastie N.D., Bard J.B. The expression of the Wilms’ tumour gene, WT1, in the developing mammalian embryo. Mech Dev 1992; 40: 85-97.Armstrong J.F., Pritchard-Jones K., Bickmore W.A., Hastie N.D., Bard J.B. The expression of the Wilms’ tumour gene, WT1, in the developing mammalian embryo. Mech Dev 1992; 40: 85-97.Bain A.D., Scott J.S. Mixed gonadal dysgenesis with XX/XY mosaicism. Lancet 1965; 1: 1035-1038.Bain A.D., Scott J.S. Mixed gonadal dysgenesis with XX/XY mosaicism. Lancet 1965; 1: 1035-1038.Bardeesy N., Zabel B., Schmitt K., Pelletier J. WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion brief report. Genomics 1994; 21: 663-665.Bardeesy N., Zabel B., Schmitt K., Pelletier J. WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion brief report. Genomics 1994; 21: 663-665.Beckwith J.B., Kiviat N.B., Bonadio J.F. Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms’ tumor. Pediatr Pathol 1990; 10: 1-36.Beckwith J.B., Kiviat N.B., Bonadio J.F. Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms’ tumor. Pediatr Pathol 1990; 10: 1-36.Breslow N., Beckwith J., Ciol M., Sharples K. Age distribution of Wilms’ tumour: report from the national Wilms’ tumour study group. Cancer Res 1988; 48: 1653-1657.Breslow N., Beckwith J., Ciol M., Sharples K. Age distribution of Wilms’ tumour: report from the national Wilms’ tumour study group. Cancer Res 1988; 48: 1653-1657.Coppes M.J., DeKraker J., van Dijken P.J. et al. Bilateral Wilms’ tumour: long term survival and some epidemiological features. J Clin Oncol 1989; 7: 310-315.Coppes M.J., DeKraker J., van Dijken P.J. et al. Bilateral Wilms’ tumour: long term survival and some epidemiological features. J Clin Oncol 1989; 7: 310-315.Denys P., Malvaux P., van den Berghe H., Tanghe W., Proemans W. Association d’un syndrome anatomo-pathologique de pseudo-hermaphrodisme masculin, d’un tumeur de Wilms’ d’un nephropathie parenchymateuse et d’un mosaicisme XX/XY. Arch Fr Pediatr 1967; 24: 729-739.Denys P., Malvaux P., van den Berghe H., Tanghe W., Proemans W. Association d’un syndrome anatomo-pathologique de pseudo-hermaphrodisme masculin, d’un tumeur de Wilms’ d’un nephropathie parenchymateuse et d’un mosaicisme XX/XY. Arch Fr Pediatr 1967; 24: 729-739.Francke U., Holmes L.B., Atkins L., Riccardi V.M. Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet 1979; 24: 185-192.Francke U., Holmes L.B., Atkins L., Riccardi V.M. Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet 1979; 24: 185-192.Frasier S.D., Bashore R.A., Mosier H.D. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediatr 1964; 64: 740-745.Frasier S.D., Bashore R.A., Mosier H.D. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediatr 1964; 64: 740-745.Furchshuber A., Jean G., Gribouval O. et al. Mapping a gene (SRNI) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet 1995; 4: 2155-2158.Furchshuber A., Jean G., Gribouval O. et al. Mapping a gene (SRNI) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet 1995; 4: 2155-2158.Holmberg Ch., Antikainen M., Ronnholm K. et al. Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 1995; 9: 10-16.Holmberg Ch., Antikainen M., Ronnholm K. et al. Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 1995; 9: 10-16.Jeanpierre C., Beroud C., Niaudet P., Junien C. Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Res 1998; 26: 271-274.Jeanpierre C., Beroud C., Niaudet P., Junien C. Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Res 1998; 26: 271-274.Knudson A.G.Jr., Strong L.C. Mutation and cancer: a model for Wilms’ tumor of the kidney. J Natl Cancer Inst 1972; 48: 313-324.Knudson A.G.Jr., Strong L.C. Mutation and cancer: a model for Wilms’ tumor of the kidney. J Natl Cancer Inst 1972; 48: 313-324.Koziell А., Grundy R. Frasier and Denys-Drash syndromes: different disorders or part of a spectrum? Arch Dis Child 1999; 81: 365-369.Koziell А., Grundy R. Frasier and Denys-Drash syndromes: different disorders or part of a spectrum? Arch Dis Child 1999; 81: 365-369.Kreidberg J.A., Sariola H., Loring J.M. et al. WT-1 is required for early kidney development. Cell 1993; 74: 679-691.Kreidberg J.A., Sariola H., Loring J.M. et al. WT-1 is required for early kidney development. Cell 1993; 74: 679-691.Little M., Holmes G., Bickmore W., van Heyningen V., Hastie N., Wainwright B. DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. Hum Mol Genet 1995; 4: 351-358.Little M., Holmes G., Bickmore W., van Heyningen V., Hastie N., Wainwright B. DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. Hum Mol Genet 1995; 4: 351-358.Montgomery B., Kelais P., Blute M. et al. Extended follow up of bilateral Wilms’ tumour: results of the national Wilms’ tumour study. J Urol 1991; 146: 514-518.Montgomery B., Kelais P., Blute M. et al. Extended follow up of bilateral Wilms’ tumour: results of the national Wilms’ tumour study. J Urol 1991; 146: 514-518.Mueller R.F. The Denys-Drash syndrome. J Med Genet 1994; 31: 471-477.Mueller R.F. The Denys-Drash syndrome. J Med Genet 1994; 31: 471-477.Overzier С. Ein XX/XY Hermaphrodit mil einem «intratubularem Ei» und einem Gonadoblastom (Gonocytom III). Klin Wschr 1964; 42: 1052-1056.Overzier С. Ein XX/XY Hermaphrodit mil einem «intratubularem Ei» und einem Gonadoblastom (Gonocytom III). Klin Wschr 1964; 42: 1052-1056.Pritchard-Jones K., Fleming S., Davidson D. et al. The candidate Wilms’ tumour gene is involved in genitourinary development. Nature 1990; 346: 194-197.Pritchard-Jones K., Fleming S., Davidson D. et al. The candidate Wilms’ tumour gene is involved in genitourinary development. Nature 1990; 346: 194-197.Schumacher V., Scharer K., Wuhl E. et al. Spectrum of early onset nephrotic syndrome associated with WТ1 missense mutations. Kidney Int 1998; 53: 1594-1600.Schumacher V., Scharer K., Wuhl E. et al. Spectrum of early onset nephrotic syndrome associated with WТ1 missense mutations. Kidney Int 1998; 53: 1594-1600.Zunin C., Soave F. Association of nephrotic syndrome and nephroblastoma in sibblings. Ann Paediat 1964; 29: 283-287.Zunin C., Soave F. Association of nephrotic syndrome and nephroblastoma in sibblings. Ann Paediat 1964; 29: 283-287.

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