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1Academic Journal
Authors: E. A. Kurmaeva, S. Ya. Volgina, N. A. Solovyeva, G. A. Kulakova, V. V. Bogolyubova, H. Zh. Irgeshova, Е. А. Курмаева, С. Я. Волгина, Н. А. Соловьева, Г. А. Кулакова, В. В. Боголюбова, Х. Ж. Иргешова
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 66, № 5 (2021); 227-232 ; Российский вестник перинатологии и педиатрии; Том 66, № 5 (2021); 227-232 ; 2500-2228 ; 1027-4065
Subject Terms: ген SKIV2L, diarrhea, malabsorption syndrome, Crohn’s disease, facial dysmorphism, skin and hair abnormalities, tricho-hepato-enteral syndrome, gene SKIV2L, диарея, синдром мальабсорбции, болезнь Крона, лицевой дисморфизм, аномалии кожи и волос, трихогепатоэнтеральный синдром
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Relation: https://www.ped-perinatology.ru/jour/article/view/1510/1168; Stankler L., Lloyd D., Pollitt R.J., Gray E.S., Thom H., Russell G. Unexplained diarrhoea and failure to thrive in 2 siblings with unusual faces and abnormal scalp hair shafts: a new syndrome. Arch Dis Child 1982; 57: 212–216. Doi:10.1136/adc.57.3.212; Girault D., Goulet O., Le Deist F., Brousse N., Colomb V., Cesarini J.P. et al. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr 1994; 125: 36–42. Doi:10.1016/s0022-3476(94)70118-0; Fabre A., Andre N., Breton A., Broue P., Badens C., Roquelaure B. Intractable diarrhea with phenotypic anomalies and tricho-hepatoenteric syndrome: two names for the same disorder. Am J Med Genet A 2007; 143: 584–588. Doi:10.1002/ajmg.a.31634; Al Qoaer K., Al Mehaidib A., Shabib S., Banemai M. Chronic diarrhea and skin hyperpigmentation: a new association. Saudi J Gastroenterol 2008; 14: 187–191. Doi:10.4103/1319-3767.41742; Monies D.M., Rahbeeni Z., Abouelhoda M., Naim E.A., Al-Younes B., Al-Mahadib A. Expanding phenotypic and allelic heterogeneity of Tricho-Hepato-Enteric Syndrome (THES). J Pediatr Gastroenterol Nutr 2015; 60(3): 352–356. Doi:10.1097/MPG.0000000000000627; Alsaghir A., Nouh F., Alshumrani M. A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. Pediatr Rep 2020; 12(3): 93–97. DOI:10.3390/pediatric12030021; Fabre A., Martinez-Vinson C., Roquelaure B., Missirian C., Andre N., Breton A. et al. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Hum Mutat 2011; 32: 277–281. DOI:10.1002/humu.21420; Fabre A., Charroux B., Martinez-Vinson C., Roquelaure B., Odul E., Sayar E. et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet 2012; 90: 689–692. DOI:10.1016/j.ajhg.2012.02.009; Fabre A., Martinez-Vinson C., Goulet O., Badens C. Syndromic diarrhea/Tricho-hepatoenteric syndrome. Orphanet J Rare Dis 2013; 8: 5. DOI:10.1186/1750-1172-8-5; Fabre A., Breton A., Coste M.E., Colomb V., Dubern B., Lachaux A. et al. Syndromic (phenotypic) diarrhoea of infancy/trichohepato-enteric syndrome. Arch Dis Child 2014; 99: 35–38. DOI:10.1136/archdischild-2013-304016; Kotecha U.H., Movva S., Puri R.D., Verma I.C. Trichohepatoenteric syndrome: founder mutation in asian indians. Mol Syndromol 2012; 3(2): 89–93. DOI:10.1159/000339896; Рославцева Е.А., Боровик Т.Э., Цимбалова Е.Г., Анушенко А.О., Потапов А.С., Лохматов М.М., Чащина И.Л., Бакрадзе М.Д. Случаи трихогепатоэнтерального синдрома (синдромной диареи), осложненного кроно-подобным заболеванием. Вопросы современной педиатрии 2015; 14(3): 416–421.; Goulet O., Vinson C., Roquelaure B., Brousse N., Bodemer C., Cezard J.P. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare Dis 2008; 3: 6. DOI:10.1186/1750-1172-3-6; Иванов Д.О., Новикова В.П., Замятина Ю.Е. Синдромальная (фенотипическая) диарея – трихогепатоэнтерический синдром. Медицина: теория и практика 2019; 4(1): 95–100.; Egritas O., Dalgic B., Onder M. Tricho-hepatoenteral syndrome presenting with mild colitis. Eur J Pediatr 2009; 168(8): 993–995. DOI:10.1007/s00431-008-0861-4; Mahjoub F.E., Imanzadeh F., Mahdavi Izadi S., Nahali Moghaddam A. Trichohepatoenteric syndrome or syndromic diarrhea-report of three members in a family, first report from Iran. Case Rep Pathol 2016; 2016: 9684910. DOI:10.1155/2016/9684910; Al-Toma A., Volta U., Auricchio R., Castillejo G., Sanders D.S., Cellier Ch. et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J 2019; 7(5): 583–613. DOI:10.1177/2050640619844125; Hallgrímsson B., Aponte J.D., Katz D.C., Bannister J.J., Riccardi S.L., Mahasuwan N. et al. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med 2020; 22(10): 1682–1693. DOI:10.1038/s41436-020-0845-y
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2Academic Journal
Authors: Е. А. Roslavtseva, Т. E. Borovik, Е. G. Tsimbalova, А. О. Anushenko, А. S. Potapov, М. М. Lokhmatov, I. L. Chashchina, М. D. Bakradze, Е. А. Рославцева, Т. Э. Боровик, Е. Г. Цимбалова, А. О. Анушенко, А. С. Потапов, М. М. Лохматов, И. Л. Чащина, М. Д. Бакрадзе
Source: Current Pediatrics; Том 14, № 3 (2015); 416-421 ; Вопросы современной педиатрии; Том 14, № 3 (2015); 416-421 ; 1682-5535 ; 1682-5527
Subject Terms: синдромная (фенотипическая) диарея, intestinal failure, parenteral, enteral nutrition, tricho-hepato-enteric syndrome, syndromic (phenotypic) diarrhea, кишечная недостаточность, парентеральное, энтеральное питание, трихогепатоэнтеральный синдром
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Relation: https://vsp.spr-journal.ru/jour/article/view/709/528; Berni Canani R., Terrin G., Cardillo G., Tomaiuolo R., Costaldo G. Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J. Pediatr. Gastroenterol. Nutr. 2010; 50: 360–366.; Stankler L., Lloyd D., Pollitt R. J., Gray E. S., Thom H., Russell G. Unexplained diarrhoea and failure to thrive in 2 siblings with unusual faces and abnormal scalp hair shafts: a new syndrome. Arch. Dis. Child. 1982; 57: 212–216.; Verloes A., Lombet J., Lambert Y., Hubert A. F., Deprez M., Fridman V., Gosseye S., Rigo J., Sokal E. Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am. J. Med. Genet. 1997; 68: 391–395.; Girault D., Goulet O., Le Deist F., Brousse N., Colomb V., Cesarini J. P., de Potter S., Canioni D., Griscelli C., Fischer A. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J. Pediatr. 1994; 125: 36–42.; Fabre A., Andre N., Breton A., Broue P., Badens C., Roquelaure B. Intractable diarrhea with phenotypic anomalies and tricho-hepatoenteric syndrome: two names for the same disorder. Am. J. Med. Genet. A. 2007; 143: 584–588.; Al Qoaer K., Al Mehaidib A., Shabib S., Banemai M. Chronic diarrhea and skin hyperpigmentation: a new association. Saudi J. Gastroenterol. 2008; 14: 187–191.; Hartley J. L., Zachos N. C., Dawood B., Donowitz M., Forman J., Pollitt R.J., Morgan N.V., Tee L., Gissen P., Kahr W.H., Knisely A.S., Watson S., Chitayat D., Booth I. W., Protheroe S., Murphy S., de Vries E., Kelly D. A., Maher E. R. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology. 2010; 138: 2388–2398.; Fabre A., Martinez-Vinson C., Roquelaure B., Missirian C., Andre N., Breton A., Lachaux A., Odul E., Colomb V., Lemale J., Cezard J. P., Goulet O., Sarles J., Levy N., Badens C. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Hum. Mutat. 2011; 32: 277–281.; Fabre A., Charroux B., Martinez-Vinson C., Roquelaure B., Odul E., Sayar E., Smith H., Colomb V., Andre N., Hugot J. P., Goulet O., Lacoste C., Sarles J., Royet J., Levy N., Badens C. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am. J. Hum. Genet. 2012; 90: 689–692.; Fabre A., Martinez-Vinson C., Goulet O., Badens C. Syndromic diarrhea/Tricho-hepatoenteric syndrome. Orphanet J. Rare Dis. 2013; 8: 5.; Fabre A., Breton A., Coste M. E., Colomb V., Dubern B., Lachaux A., Lemale J., Mancini J., Marinier E., Martinez-Vinson C., Peretti N., Perry A., Roquelaure B., Venaille A., Sarles J., Goulet O., Badens C. Syndromic (phenotypic) diarrhoea of infancy/trichohepato-enteric syndrome. Arch. Dis Child. 2014; 99: 35–38.; Kotecha U. H., Movva S., Puri R. D., Verma I. C. Trichohepatoenteric syndrome: founder mutation in asian indians. Mol. Syndromol. 2012; 3 (2): 89–93. Doi:10.1159/000339896.; Monies D. M., Rahbeeni Z., Abouelhoda M., Naim E. A., AlYounes B., Al-Mahadib A. Expanding phenotypic and allelic heterogeneity of Tricho-Hepato-Enteric Syndrome (THES). J. Pediatr. Gastroenterol. Nutr. 2015; 60 (3): 352–356. Doi:10.1097/ MPG.0000000000000627.; Goulet O., Vinson C., Roquelaure B., Brousse N., Bodemer C., CezardJ.P. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J. Rare Dis. 2008; 3: 6.; Egritas O., Dalgic B., Onder M. Tricho-hepatoenteral syndrome presenting with mild colitis. Eur. J. Pediatr. 2008; 12, 168 (8): 993–995. 16. Dweikat I., Sultan M., Maraqa N., Hindi T., Abu-Rmeileh S., Abu-Libdeh B. Clinical report. Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dismorphic features, and hair abnormality. Am. J. Med. Genet. 2007; Part A, 143 (6): 581–583.
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3Academic Journal
Случаи трихогепатоэнтерального синдрома (синдромной диареи), осложненного кроноподобным заболеванием
Authors: РОСЛАВЦЕВА ЕЛЕНА АЛЕКСАНДРОВНА, БОРОВИК Т.Э., ЦИМБАЛОВА Е.Г., АНУШЕНКО А.О., ПОТАПОВ А.С., ЛОХМАТОВ М.М., ЧАЩИНА И.Л., БАКРАДЗЕ М.Д.
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4Academic Journal
Случаи трихогепатоэнтерального синдрома (синдромной диареи), осложненного кроноподобным заболеванием
Source: Вопросы современной педиатрии.
Subject Terms: СИНДРОМ МАЛЬАБСОРБЦИИ,MALABSORPTION SYNDROME,КИШЕЧНАЯ НЕДОСТАТОЧНОСТЬ,INTESTINAL FAILURE,ПАРЕНТЕРАЛЬНОЕ,PARENTERAL,ЭНТЕРАЛЬНОЕ ПИТАНИЕ,ENTERAL NUTRITION,ТРИХОГЕПАТОЭНТЕРАЛЬНЫЙ СИНДРОМ,TRICHO-HEPATO-ENTERIC SYNDROME,СИНДРОМНАЯ (ФЕНОТИПИЧЕСКАЯ) ДИАРЕЯ,SYNDROMIC (PHENOTYPIC) DIARRHEA, 3. Good health
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