Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease
Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES) is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial feat...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2015-08-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/709 |
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| author | Е. А. Roslavtseva Т. E. Borovik Е. G. Tsimbalova А. О. Anushenko А. S. Potapov М. М. Lokhmatov I. L. Chashchina М. D. Bakradze |
| author_facet | Е. А. Roslavtseva Т. E. Borovik Е. G. Tsimbalova А. О. Anushenko А. S. Potapov М. М. Lokhmatov I. L. Chashchina М. D. Bakradze |
| author_sort | Е. А. Roslavtseva |
| collection | DOAJ |
| description | Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES) is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. |
| format | Article |
| id | doaj-art-64338c96cf0546b997e50b28f9330d76 |
| institution | Kabale University |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2015-08-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-64338c96cf0546b997e50b28f9330d762025-08-20T03:35:16Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352015-08-0114341642110.15690/vsp.v14i3.1381709Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s DiseaseЕ. А. Roslavtseva0Т. E. Borovik1Е. G. Tsimbalova2А. О. Anushenko3А. S. Potapov4М. М. Lokhmatov5I. L. Chashchina6М. D. Bakradze7Scientific Centre of Children Health, Moscow, Russian FederationScientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian FederationScientific Centre of Children Health, Moscow, Russian FederationScientific Centre of Children Health, Moscow, Russian FederationScientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian FederationScientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian FederationScientific Centre of Children Health, Moscow, Russian FederationScientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian FederationTricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES) is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature.https://vsp.spr-journal.ru/jour/article/view/709malabsorption syndromeintestinal failureparenteralenteral nutritiontricho-hepato-enteric syndromesyndromic (phenotypic) diarrhea |
| spellingShingle | Е. А. Roslavtseva Т. E. Borovik Е. G. Tsimbalova А. О. Anushenko А. S. Potapov М. М. Lokhmatov I. L. Chashchina М. D. Bakradze Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease Вопросы современной педиатрии malabsorption syndrome intestinal failure parenteral enteral nutrition tricho-hepato-enteric syndrome syndromic (phenotypic) diarrhea |
| title | Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease |
| title_full | Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease |
| title_fullStr | Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease |
| title_full_unstemmed | Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease |
| title_short | Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease |
| title_sort | cases of trichohepatoenteric syndrome syndromic diarrhea with underlying crohn s disease |
| topic | malabsorption syndrome intestinal failure parenteral enteral nutrition tricho-hepato-enteric syndrome syndromic (phenotypic) diarrhea |
| url | https://vsp.spr-journal.ru/jour/article/view/709 |
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