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1Academic Journal
المؤلفون: J. G. Leviashvili, N. D. Savenkova, V. I. Guzeva, I. V. Anichkova, E. N. Suspitsin, Ж. Г. Левиашвили, Н. Д. Савенкова, В. И. Гузева, И. В. Аничкова, Е. Н. Суспицин
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 63, № 1 (2018); 90-95 ; Российский вестник перинатологии и педиатрии; Том 63, № 1 (2018); 90-95 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2018-63-1
مصطلحات موضوعية: лечение, Gitelman syndrome, hypomagnesemia, hypokalemia, alkalosis, cerebral calcifications, gene SLC12А3, diagnostics, treatment, синдром Гительмана, гипомагниемия, гипокалиемия, алкалоз, церебральные кальцификаты, ген SLC12А3, диагностика
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/625/600; OMIM: An online catalog of human genes and genetic disorders [Electronic resource]. Electronic data. Baltimore: Johns Hopkins Univ., 2015; Mode of access: http://www.omim.org/; Савенкова Н.Д., Папаян А.В., Левиашвили Ж.Г. Тубулопатии в практике педиатра. Руководство для врачей. Под ред. Н.Д. Савенковой, А.В. Папаяна. СПб: Левша 2006; 144.; Юрьева Э.А., Вельтищев Ю.Е., Игнатова М.С. Тубулопатии. В кн.: Детская нефрология. Руководство для врачей. Под ред. М. С. Игнатовой. М.: Мед. информ. агентство, 2011; 358–389.; Genetic diseases of the kidney. R.P. Lifton, S. Somlo, G.H. Giebisch (eds). Amsterdam, London: Elsevier: Acad. Press, 2009; 848.; Emmett M.,Sterns R.H, Forman J.P. Bartter and Gitelman syndromes [Electronic resource]. UpToDate. Electronic data, 2015; mode of access: http://www.uptodate.com/contents/ bartter-and-gitelman syndromes; Gil-Peña H., Mejia N., Alvarez-Garcia O., Loredo V., Santos F. Longitudinal growth in chronic hypokalemic disorders. Pediatr Nephrol 2010; 25(4): 733–737. DOI: org/10.1007/ s00467-009-1330-7; Левиашвили Ж.Г., Савенкова Н.Д., Левичева О.В., Снежкова Е.А. Катамнестическое наблюдение детей с синдромом Bartter и Gitelman. Нефрология 2013; 17(3): 80–87.; Devuyst O., Belge H., Konrad M., Jeunemaitre X., Zennaro M.C. Renal tubular disorders of electrolyte regulation in children. Gitelman syndrome. In: Pediatric Nephrology. E.D. Avner (ed.). Springer-Verlag, Berlin, Heidelberg, 2016; 1215–1221. DOI:10.1007/978-3-662-43596-0_34 1201; Das S.K., Ghosh A., Banerjee N., Khaskil S. Gitelman’s syndrome presenting with hypocalcemia, basal ganglia calcification and periodic paralysis. Singapore Med J 2012; 53: e222–e224.; Peters M., Jeck N., Reinalter S., Leonhardt A., Tönshoff B., Klaus G. et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Amer J Med 2002; 112(3): 183–190.; Viering D.H.H.M., de Baaij J.H.F., Walsh S.B., Kleta R., Bockenhauer D. Genetic causes of hypomagnesemia, a clinical overview. Pediatr Nephrol 2017; 32(7): 1123–1135. DOI:10.1007/s00467-016-3416-3; Beltagi A.El., Norbash A., Vattoth S.Novel brain MRI abnormalities in Gitelman syndrome. Neuroradiol J 2015; 28(5): 523-528.DOI:10.1177/1971400915609340; Koulouridis E., Koulouridis I. Molecular pathophysiology of Bartter’s and Gitelman’s syndromes. World J Pediatr 2015; 11(2): 113–125. DOI:10.1007/s12519-015-0016-4; Sardani Y., Qin K., Haas M., Aronson A.J., Rosenfield R.L. Bartter syndrome complicated by immune complex nephropathy: case report and literature review. Pediatr Nephrol 2003; 18(9): 913–918.; Seyberth H.W., Schlingmann K.P. Bartter and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol 2011; 26(10): 1789–1802. DOI:10.1007/s00467-011-1871-4; Simon D. B., Nelson-Williams C., Bia M. J., Ellison D., Karet F.E., Molina A.M. et al. Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genet 1996; 12(1): 24–30. DOI:10.1038/ng0196-24; Monnens L., Bindels R., Grünfeld J.P. Gitelman syndrome comes of age. Nephrol Dial Transplant1998; 13(7): 1617–1619.; Devarajan, P., Langman C.B. Pediatric Bartter syndrome [Electronic resource]. Medscape 2011; mode of access: http://www.emedicine.com/ped/TOPIC210.HTM; Riveira-Munoz E., Chang Q., Godefroid N., Hoenderop J.G., Bindels R.J., Dahan K. et al. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Amer Soc Nephrol 2007; 18(4): 1271–1283. DOI:10.1681/ASN.2006101095; Tsutsui H., Hamano T., Kawaura Y.,Inaba S., Miyamori I.,YasujimaM, et al. Case of Gitelman syndrome associated with idiopathic intracranial hypertension. Intern Med 2011; 50: 1493–1496. DOI:10.2169/internalmedicine.50.5305.; Quinlan C.S., Walsh J.C., Moran A.M., Moran C., O’Rourke S.K. Gitelman syndrome. A rare presentation mimicking cauda equina syndrome. J Bone Joint Surg Br 2011; 93: 266–268. DOI:10.1302/0301-620X.93B2.25700; Gandi K., Prasad D., Malhotra V., Agrawal D. Gitelman’s syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis, case report. India Saudi J Kidney Dis Transpl 2016; 27(5): 1026–1028.; Gierth M., Banas B., Burger M. Metabolic alkalosis. In: Urology at a glance.A.S. Merseburger, M.A. Kuczyk, J.W. Moul (eds). Heidelberg, New York, Dordrecht, London: Springer, 2014; 77–80.; Vargas-Poussou R., Dahan K., Kahila D., Venisse A., Riveira-Munoz E., Debaix H. et al. Spectrum of Mutations in Gitel-man Syndrome. J Am SocNephrol 2011; 22(4): 693–703. DOI:10.1681/ASN.2010090907; Игнатова М.С., Длин В.В. Роль генетики в развитии детской нефрологии. Рос вестн перинатол и педиатр 2015; 60(3): 6–9.; Николаева Е.А. Значение достижений медицинской генетики для решения проблемы нарушения развития у детей. Рос вестн перинатол и педиатр 2016; 61(2): 5–11. DOI:10.21508/1027-4065-2016-61-2-5-11; https://www.ped-perinatology.ru/jour/article/view/625
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2Academic Journal
المؤلفون: A. A. Kashintsev, G. A. Yanus, N. Yu. Kokhanenko, V. M. Moiseenko, M. D. Hanevich, L. D. Roman, A. G. Ievleva, A. P. Sokolenko, E. N. Suspitsin, A. I. Budovskiy, A. V. Togo, N. M. Volkov, R. V. Fadeev, M. S. Dinikin, A. K. Ivanova, K. G. Shostko, E. N. Imyanitov, А. А. Кашинцев, Г. А. Янус, Н. Ю. Коханенко, В. М. Моисеенко, М. Д. Ханевич, Л. Д. Роман, А. Г. Иевлева, А. П. Соколенко, Е. Н. Суспицин, А. И. Будовский, А. В. Того, Н. М. Волков, Р. В. Фадеев, М. С. Диникин, А. К. Иванова, К. Г. Шостко, Е. Н. Имянитов
المصدر: Siberian journal of oncology; № 5 (2013); 39-44 ; Сибирский онкологический журнал; № 5 (2013); 39-44 ; 2312-3168 ; 1814-4861 ; undefined
مصطلحات موضوعية: наследственный рак молочной железы и яичников, BRCA1, BRCA2
وصف الملف: application/pdf
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