nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.24884/1561-6274-2018-22-3-88-94nefr-369Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИPRACTICAL NOTESMYH9-АССОЦИИРОВАННЫЙ СИНДРОМ EPSTEIN: МАКРОТРОМБОЦИТОПЕНИЯ, НЕЙРОСЕНСОРНАЯ ТУГОУХОСТЬ, НЕФРОПАТИЯ У ДЕТЕЙ (ОБЗОР ЛИТЕРАТУРЫ И КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ)MYH9-ASSOCIATED SYNDROME EPSTEIN: MACROTHROMBOCYTOPENIA, SENSORINEURAL HEARING LOSS, NEPHROPATHY IN CHILDREN (ACCORDING TO THE LITERATURE)ГригорьеваО. П.GrigorevaO. P.

канд. мед. наук, ФГБОУ ВО Санкт-Петербургский государственный педиатрический медицинский университет Минздрава России, ассистент кафедры факультетской педиатрии

MD, PhD, SaintPetersburg State Pediatric Medical University Assistant of the department of faculty pediatric

opgrigoreva@mail.ruСавенковаН. Д.SavenkovaN. D.

д-р мед. наук, заведующая кафедрой факультетской педиатрии

Prof., MD, PhD, DMedSci, Saint-Petersburg State Pediatric Medical University Head of the department of faculty pediatric

Savenkova.n.spb@mail.ruПапаянК. А.PapayanK. A.

доц., канд. мед. наук. ФГБОУ ВО Санкт-Петербургский государственный педиатрический медицинский университет, каф. факультетской педиатрии

Associate professor, MD, PhD, DMedSci, SaintPetersburg State Pediatric Medical University, department Faculty pediatrics

Papayan@inbox.ruНаточинаН. Ю.NatochinaN. Y.

доц., канд. мед. наук, ФГБОУ ВО Санкт-Петербургский государственный педиатрический медицинский университет Минздрава России, каф. факультетской педиатрии

Associate professor, MD, PhD, SaintPetersburg State Pediatric Medical University, department Faculty pediatrics

smallnataly@mail.comСидоренкоВ. М.SidorenkoV. M.

ФГБОУ ВО Санкт-Петербургский государственный педиатрический медицинский университет Минздрава России, студентка VI курса

student

helloy1995@mail.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation2018120520182238894Copyright © Григорьева О.П., Савенкова Н.Д., Папаян К.А., Наточина Н.Ю., Сидоренко В.М., 20182018Григорьева О.П., Савенкова Н.Д., Папаян К.А., Наточина Н.Ю., Сидоренко В.М.Grigoreva O.P., Savenkova N.D., Papayan K.A., Natochina N.Y., Sidorenko V.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/369

В статье представлен обзор литературы по клиническим, морфологическим, молекулярно-генетическим особенностям MYH9-ассоциированного синдрома Epstein, протекающего с макротромбоцитопенией, нейросенсорной тугоухостью, нефропатией. Обсуждены клинико-генетические варианты, особенности течения, лечения и прогноза MYH9- ассоциированного синдрома Epstein у детей. Описано клиническое наблюдение MYH9-ассоциированного синдрома Эпштейна у мальчика 8 лет. К

 

The article presents literature data on clinical and morphological manifestations of MYH9-associated Epstein syndrome, flowing with macrothrombocytopenia, sensorineural hearing loss, nephropathy. The pathogenetic foundations, clinical features, course, treatment and prognosis of MYH9-associated Epstein syndrome in children are discussed. The paper presents clinical observation confirmed by molecular genetic study MYH9-associated Epstein syndrome in an 8-year-old boy.

наследственная макротромбоцитопенияMYH9-ассоциированный синдром Эпштейнадетиinherited macrothrombocytopeniaMYH9-associated Epstein syndromechildrenReferencesМеждународная классификация болезней и проблем, связанных со здоровьем, 10-го пересмотра. http://mkb-10. com.International Classification of Diseases and Related Health Problems. http://mkb-10.com. (in Russ)OMIM/#153650/Epstein syndrome; Epstns https://www. ncbi.nlm.nih.gov/omim/153650OMIM/#153650/Epstein syndrome; Epstns https://www. ncbi.nlm.nih.gov/omim/153650Epstein syndrome. http://www.orpha.net/consor/cgibin/ Epstein syndromeEpstein syndrome. http://www.orpha.net/consor/cgibin/ Epstein syndromeSavoia A, Pecci A. MYH9-related disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2008 Nov 20 [updated 2015 Jul 16]. https://www.ncbi.nlm.nih.gov/books/NBK2689/ PMID: 20301740Savoia A, Pecci A. MYH9-related disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2008 Nov 20 [updated 2015 Jul 16]. https://www.ncbi.nlm.nih.gov/books/NBK2689/ PMID: 20301740Сунцова ЕВ, Калинина МП, Аксёнова МЕ и др. Наследственная тромбоцитопения, ассоциированная с мутацией в гене MYH9. Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2017; 1(16): 40–48. DOI: 10.24287/ 1726-1708-2017-16-1-40-48Suncova EV, Kalinina MP, Aksjonova ME i dr. Nasledstvennaja trombocitopenija, associirovannaja s mutaciej v gene MYH9. Voprosy gematologii/onkologii i immunopatologii v pediatrii 2017; 1(16) ): 40–48 DOI: 10.24287/ 1726-1708-2017-16-1-40-48Arrondel C, Vodovar N, Knebelmann B et al. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol 2002; 13(1): 65–74Arrondel C, Vodovar N, Knebelmann B et al. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol 2002; 13(1): 65–74Althaus K, Greinacher A. MYH9-related platelet disorders. Seminars in Thrombosis and Hemostasis 2009; 35(2):189–203. DOI:10.1055/s-0029-1220327Althaus K, Greinacher A. MYH9-related platelet disorders. Seminars in Thrombosis and Hemostasis 2009; 35(2):189–203. DOI:10.1055/s-0029-1220327Pagon RA, Adam MP, Ardinger HH et al, eds. Gene Reviews. Seattle (WA): University of Washington, Seattle; 2015Pagon RA, Adam MP, Ardinger HH et al, eds. Gene Reviews. Seattle (WA): University of Washington, Seattle; 2015Seri M, Pecci A, Di Bari F et al. MYH9-related disease May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single Illness. Medicine 2003; 82: 203–215Seri M, Pecci A, Di Bari F et al. MYH9-related disease May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single Illness. Medicine 2003; 82: 203–215Galeano D, Zanoli L, Vincenzo L et al. Malattie renali correlate al gene MYH9. Giornale Italiano di Nephrologia 2017; 34(2):40–57Galeano D, Zanoli L, Vincenzo L et al. Malattie renali correlate al gene MYH9. Giornale Italiano di Nephrologia 2017; 34(2):40–57Ghiggeri GM, Caridi G, Magrini U et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney diseases 2003; 41(1): 95–104Ghiggeri GM, Caridi G, Magrini U et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney diseases 2003; 41(1): 95–104Matsha TE, Masconi K, Yako YY et al. Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa. PLOS ONE 2012; 7(12): e 52529. DOI: 10.1371/ journal.pone.0052529Matsha TE, Masconi K, Yako YY et al. Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa. PLOS ONE 2012; 7(12): e 52529. DOI: 10.1371/ journal.pone.0052529Freedman BI, Hicks PJ, Bostrom MA et al. Non-muscle myosin heavy chain 9 gene MYH9 associations in African Ameri-cans with clinically diagnosed type 2 diabetes mellitus-associated ESRD. Оfficial publication of the European Dialysis and Transplant Association – European Renal Association. Nephrology, Dialysis, Transplantation 2009; 24 (11): 3366–3371 doi:10.1093/ndt/ gfp316Freedman BI, Hicks PJ, Bostrom MA et al. Non-muscle myosin heavy chain 9 gene MYH9 associations in African Ameri-cans with clinically diagnosed type 2 diabetes mellitus-associated ESRD. Оfficial publication of the European Dialysis and Transplant Association – European Renal Association. Nephrology, Dialysis, Transplantation 2009; 24 (11): 3366–3371 doi:10.1093/ndt/ gfp316Freedman BI, Edberg JC, Comeau ME et al. The non-muscle myosin heavy chain 9 gene (MYH9) is not associated with lupus nephritis in African Americans. Am J Nephrol 2010; 32:66–72. DOI: 10.1159/000314688Freedman BI, Edberg JC, Comeau ME et al. The non-muscle myosin heavy chain 9 gene (MYH9) is not associated with lupus nephritis in African Americans. Am J Nephrol 2010; 32:66–72. DOI: 10.1159/000314688Lin CP, Adrianto I, Lessard CJ et al. Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis. Genes and Immunity 2012; 13(3): 232–238. MEDLINE ID: mdl-22189356Lin CP, Adrianto I, Lessard CJ et al. Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis. Genes and Immunity 2012; 13(3): 232–238. MEDLINE ID: mdl-22189356Hashimoto J, Hamasaki Y, Yanagisawa T et al. Successful kidney transplantation in Epstein Syndrome with antiplatelet antibodies and donor – specific antibodies: A Case Report. Trasplant Proc 2015; 47(8): 2541–2543 DOI: https://doi.org/10.1016/j. transproceed.2015.09.010Hashimoto J, Hamasaki Y, Yanagisawa T et al. Successful kidney transplantation in Epstein Syndrome with antiplatelet antibodies and donor – specific antibodies: A Case Report. Trasplant Proc 2015; 47(8): 2541–2543 DOI: https://doi.org/10.1016/j. transproceed.2015.09.010

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