The difficult path to diagnosis. A case of tufting enteropathy
A. A. Kovaleva,
I. A. Leonova,
A. A. Sukhotskaya,
A. P. Smorodin,
V. G. Bairov,
N. M. Anichkov,
E. Yu. Kalinina,
Z. V. Davydova,
E. P. Fedotova https://doi.org/10.31146/1682-8658-ecg-221-1-99-104
Abstract
Tufted enteropathy is a rare autosomal recessive enteropathy with neonatal onset, accompanied by intractable diarrhea and malabsorption. The typical histological appearance is characterized by “bundles” of densely packed epithelial enterocytes. The etiology of this disease is mutations in the gene for the cell adhesion molecule EpCAM. The article presents a clinical case of confirmed tufting entropathy in a child.
About the Authors
A. A. Kovaleva
Pavlov First Saint Petersburg State Medical University
Russian Federation
Russian Federation
I. A. Leonova
Pavlov First Saint Petersburg State Medical University; Almazov National Medical Research Center
Russian Federation
Russian Federation
A. A. Sukhotskaya
Almazov National Medical Research Center
Russian Federation
Russian Federation
A. P. Smorodin
Almazov National Medical Research Center
Russian Federation
Russian Federation
V. G. Bairov
Almazov National Medical Research Center
Russian Federation
Russian Federation
N. M. Anichkov
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
E. Yu. Kalinina
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
Z. V. Davydova
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
E. P. Fedotova
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
References
1. Goulet O., Salomon J., Ruemmele F. et al.Intestinal epithelial dysplasia (tufting enteropathy). Orphanet J Rare Dis. 2007; 2: 20-26.
2. Sivagnanam M., Mueller J.L., Lee H. et al. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008; 135: 429-437 doi: 10.1053/j.gastro.2008.05.036.
3. Armstrong A., Eck S. EpCAM: a new therapeutic target for an old cancer antigen. Cancer biology & therapy. 2003; 2 (4): 320-326. doi:10.4161/cbt.2.4.451.
4. Litvinov S. V., Balzar M., Winter M. J. et al. Epithelial cell adhesion molecule (Ep-CAM) modulates cell-cell interactions mediated by classic cadherins. J Cell Biol. 1997; 139 (5): 1337-1348. doi:10.1083/jcb.139.5.1337.
5. Balzar M., Winter M.J., de Boer C.J., Litvinov S.V. The biology of the 17-1A antigen (Ep-CAM). J. Mol. Med. 1999; 77 (10): 699-712. doi:10.1007/s001099900038.
6. Balzar M., Prins F.A., Bakker H.A. et al. The structural analysis of adhesions mediated by EpCAM. Experimental Cell Research. 1999; 246 (1): 108-121.
7. Trzpis M., McLaughlin P.M., de Leij L.M., Harmsen M.C. Epithelial cell adhesion molecule: More than a carcinoma marker and adhesion molecule. The American journal of pathology. 2007; 171 (2): 386-395.
8. Huang L., Yang Y., Yang F. et al. Functions of EpCAM in physiological processes and diseases (Review).Int J Mol Med. 2018; 42 (4): 1771-1785. doi: 10.3892/ijmm.2018.3764.
9. Nochi T., Yuki Y., Terahara K. et al. Biological role of Ep-CAM in the physical interaction between epithelial cells and lymphocytes in intestinal epithelium. Clin Immunol. 2004; 113: 326-339. doi: 10.1016/j.clim.2004.08.013.
10. Kozan P.A., McGeough M.D., Peña C.A. et al. Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction. J Mol Med (Berl). 2015; 93: 535-545. doi: 10.1007/s00109-014-1239-x.
11. Pathak S.J., Mueller J.L., Okamoto K. et al. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. Hum. Mutat. 2019; 40: 142-161. doi: 10.1002/humu.23688.
12. Zhou Y.Q., Wu G.S., Kong Y.M. et al. New mutation in EPCAM for congenital tufting enteropathy: а case report. World J. Clin. Cases. 2020; 8: 4975-4980. doi: 10.12998/wjcc.v8.i20.4975.
13. Schnell U., Kuipers J., Mueller J.L. et al. Absence of cell-surface EpCAM in congenital tufting enteropathy. Hum. Mol. Genet. 2013; 22: 2566-2571. doi: 10.1093/hmg/ddt105.
14. Taranushenko T.E., Vasilyeva E.M., Antsiferova E.V. et al.Intestinal epithelial dysplasia. Pacific Medical Journal. 2020; 1: 91-94. (In Russ.) doi: 10.34215/1609-1175-2020-1-91-94.@@ Таранушенко Т.Е., Васильева Е.М., Анциферова Е.В. и др. Интестинальная эпителиальная дисплазия. Pacific Medical Journal. 2020; 1: 91-94. doi: 10.34215/1609-1175-2020-1-91-94.
15. Garkusha T.A., Gappoev S.V., Khorzhevskii V.A. et al. Case report of tufting-enteropathy: course of the disease, complexity of morphological diagnosis. Сlinical and experimental morphology. 2020; 9 (4): 65-70. (In Russ.) doi: 10.31088/CEM2020.9.4.65-70.@@ Гаркуша Т.А., Гаппоев С.В., Хоржевский В.А., Левкович Л.Г. Наблюдение тафтинг-энтеропатии: течение, сложности морфологической диагностики. Сlinical and experimental morphology. 2020; 9 (4): 65-70. doi: 10.31088/CEM2020.9.4.65-70.
16. Fang Y., Luo Y., Yu J. et al. A case of severe malnutrition infant with neonatal onset intractable diarrhea. BMC Pediatr. 20; 133 (2020). doi: 10.1186/s12887-020-1999-0.
17. Ayyıldız Civan H., Leitner C., Östreicher I. et al. Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families. Children. 2021;(8):503. doi: 10.3390/children8060503.
18. Ashworth I., Wilson A., Aquilina S. et al. Reversal of intestinal failure in children with tufting enteropathy supported with parenteral nutrition at home. Journal of Pediatric Gastroenterology and Nutrition. 2018; 66 (6): 967-971. doi: 10.1097/MPG.0000000000001894.
19. Erpuleva Yu.V., Chubarova A.I., Weinstein N.P. et al.Complications of long-term parental nutrition and children of breast age.Russian Journal of Pediatric Surgery, Anesthesia and Intensive Care. 2017; VII (1): 59-68. (In Russ.)@@ Ерпулева Ю.В., Чубарова А.И., Вайнштейн Н.П., Британишская Е.А., Митина Ю.А. Осложнения длительного парентерального питания новорожденных и детей грудного возраста.Russian Journal of Pediatric Surgery, Anesthesia and Intensive Care. 2017; VII (1): 59-68.
20. Das B., Sivagnanam M. Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms. J. Clin. Med. 2021; 10, 19. doi: 10.3390/jcm10010019.
21. Ivanov D.O., Novikova V.P. Neonatal gastroenterology. - St. Petersburg: Federal State Budgetary Institution of Higher Education St. Petersburg State Pediatric Medical University of the Ministry of Health of Russia, 2020. 344 P. (In Russ.)@@ Иванов Д.О., Новикова В.П. Неонатальная гастроэнтерология. - СПБ: ФГБУ ВО СПбГПМУ Минздрава России, 2020. - 344 с.
Review
For citations:
Kovaleva A.A., Leonova I.A., Sukhotskaya A.A., Smorodin A.P., Bairov V.G., Anichkov N.M., Kalinina E.Yu., Davydova Z.V., Fedotova E.P. The difficult path to diagnosis. A case of tufting enteropathy. Experimental and Clinical Gastroenterology. 2024;(1):99-104. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-221-1-99-104
Views:
426
Email this article 