2020
DOI: 10.1155/2020/5608069
|View full text |Cite
|
Sign up to set email alerts
|

Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome

Abstract: Congenital tufting enteropathy (CTE), also named intestinal epithelial dysplasia, is a rare, autosomal recessive enteropathy with persistent and life-threatening intractable diarrhea early in life. Intractable diarrhea is present independent of breast or formula feeding. Most CTE patients require total parenteral nutrition (TPN), and in severe cases, small bowel transplantation is needed. In the last decade, we have seen remarkable progress in certain aspects, such as the pathogenesis and diagnostic methods of… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
2

Citation Types

0
19
0

Year Published

2020
2020
2023
2023

Publication Types

Select...
6

Relationship

0
6

Authors

Journals

citations
Cited by 10 publications
(19 citation statements)
references
References 68 publications
(131 reference statements)
0
19
0
Order By: Relevance
“…Moreover, CTE patients are also reported to have other signs or symptoms, including skeletal dysplasia [15], cholestatic liver disease, chronic arthritis [5,29], bone and dermatological abnormalities [16]. Arthritis is more common in patients with EPCAM mutations who have extra-intestinal manifestations, whereas ophthalmological symptoms and atresia are more common in patients with SPINT2 mutations [12]. These findings may help us in understanding the pathophysiology of this disease.…”
Section: Clinical Aspects Of Ctementioning
confidence: 98%
See 3 more Smart Citations
“…Moreover, CTE patients are also reported to have other signs or symptoms, including skeletal dysplasia [15], cholestatic liver disease, chronic arthritis [5,29], bone and dermatological abnormalities [16]. Arthritis is more common in patients with EPCAM mutations who have extra-intestinal manifestations, whereas ophthalmological symptoms and atresia are more common in patients with SPINT2 mutations [12]. These findings may help us in understanding the pathophysiology of this disease.…”
Section: Clinical Aspects Of Ctementioning
confidence: 98%
“…Although typically, no inflammatory cell infiltration is seen in CTE, some inflammatory infiltration can be found [13]. Just over 200 cases have been reported for this rare disease, and many of these are clinically heterogeneous [12]. The severity of this disease varies.…”
Section: Clinical Aspects Of Ctementioning
confidence: 99%
See 2 more Smart Citations
“…Common features of SCSD comprise congenital sodium diarrhea, choanal or anal atresia, hypertelorism, and corneal erosions. Before molecular analysis techniques became readily available, it was difficult to distinguish it from nonsyndromic congenital tufting enteropathy (CTE) caused by pathogenic variants in the EpCAM gene (Cai et al, 2020). Our patient is homozygous for a well‐established SPINT2 missense variant c.488A > G (p.Y163C).…”
Section: Introductionmentioning
confidence: 99%