Objective: To explore the clinical characteristics of diagnosis and treatment in patients with congenital tufting enteropathy.
Method: A rare case of congenital tufting enteropathy was diagnosed at West China Second University Hospital, Sichuan University in July 2016, the clinical data of congenital tufting enteropathy was analyzed retrospectively, and the related literature were reviewed. Original papers on congenital tufting enteropathy published until Oct 2017 were retrieved at PubMed CNKI databases and Wangfan databases by the use of the key words EPCAM , congenital tufting enteropathy.
Results: A 2-year and 2-month old girl began to develop intractable chronic diarrhea soon after birth, accompanied with growth restriction, repeated infections, anemia and so on. Next-generation DNA sequencing revealed a homozygous C>A substitution at exon 3 in EPCAM of the affected patient (c.412C>T, p. R138X), and she was finally diagnosed as congenital tufting enteropathy. A total of 60 cases of congenital tufting enteropathy caused by EPCAM gene mutation were found in 14 papers, all of which were published abroad, and 34 EPCAM gene mutations were reported. 11 of them were located in exon 3.
Conclusion: A case of congenital tufting enteropathy caused by EPCAM gene mutation was reported for the second time in China. Congenital tufting enteropathy is rare and difficult to diagnosis. Chronic intractable diarrhea associated with growth retardation in infants should be highly alert to the possibility of congenital tufting enteropathy.
Keywords: EPCAM, congenital tufting enteropathy, intractable diarrhea
27 - 29 Sep 2018
European Society for Paediatric Endocrinology