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Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease

https://doi.org/10.15690/vsp.v14i3.1381

Abstract

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. 

About the Authors

Е. А. Roslavtseva
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation


Т. E. Borovik
Scientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian Federation
Russian Federation


Е. G. Tsimbalova
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation


А. О. Anushenko
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation


А. S. Potapov
Scientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian Federation
Russian Federation


М. М. Lokhmatov
Scientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian Federation
Russian Federation


I. L. Chashchina
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation


М. D. Bakradze
Scientific Centre of Children Health, Moscow, Russian Federation I.M. Sechenov First Moscow State Medical University, Russian Federation
Russian Federation


References

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Review

For citations:


Roslavtseva Е.А., Borovik Т.E., Tsimbalova Е.G., Anushenko А.О., Potapov А.S., Lokhmatov М.М., Chashchina I.L., Bakradze М.D. Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease. Current Pediatrics. 2015;14(3):416-421. (In Russ.) https://doi.org/10.15690/vsp.v14i3.1381

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