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1Academic 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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2Academic 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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3Academic 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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