Previously, a murine cte model showed mislocalization of epcam away from the basolateral cell surface in the intestine. Proteinlosing enteropathy is a debilitating and grave complication of fontantype surgery that carries a 5year survival rate of less than 50% and may occur in up to % of longterm survivors. Congenital tufting enteropathy cte is a rare chronic diarrheal disease of infancy caused by mutations in epithelial cell adhesion molecule epcam. Cte is characterized by intestinal epithelial cell dysplasia leading to severe malabsorption and significant morbidity and mortality.
Pdf intestinal epithelial dysplasia tufting enteropathy. The disease is characterized by morphological abnormalities in the intestinal epithelium, including subtotal villous atrophy with crypt hyperplasia and focal crowding of surface enterocytes, resembling tufts. Apr 30, 2010 characterization phenotypic and genetic study of the intestinal epithelial dysplasia or tufting enteropathy te dei the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Two genes have been associated with this condition. Congenital tufting enteropathy and chronic arthritis. Tufting enteropathy occurs when the surface cells lining the intestine do not develop normally causing an inability to absorb fluid and nutrients entering the intestine.
Further evidence for epcam as the gene for congenital tufting. Tufting enteropathy te, also known as intestinal epithelial dysplasia ied, is a rare disorder that causes chronic watery diarrhea, and is characterized by the presence of focal epithelial tufts composed of clusters of closely packed enterocytes with round, teardropshaped projections in the apical cytoplasm. Congenital tufting enteropathy cte is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Genetic characterization of congenital tufting enteropathy. Epidemiology no epidemiological data is available, however, the prevalence can be. The prognosis of this previously fatal condition has been transformed by daily parenteral nutrition pn, and intestinal transplantation. Congenital tufting enteropathy cte, mim 6217, also known as intestinal epithelial dysplasia, is a rare congenital enteropathy presenting as earlyonset severe watery diarrhea. G85p longterm outcome of survival, growth and intesitnal failure. Congenital tufting enteropathy cte is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. Conclusion children with tufting enteropathy have an increasing chance of.
Tufting enteropathy te is an uncommon disease causing intractable diarrheas starting in early childhood and resulting in failure to thrive, dependence on total parenteral nutrition, and eventually requiring transplantation for treatment. Congenital tufting enteropathy cte, an inherited autosomal recessive rare disease, is a severe. Generations are indicated by roman numerals on the left. Cte is characterized by intestinal epithelial cell dysplasia leading to severe malabsorption and signi. Intestinal epithelial dysplasia ied, also known as tufting enteropathy, is a congenital enteropathy presenting with earlyonset severe intractable diarrhea and persistent villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium 1,2. Pdf a rare cause of congenital diarrhea in a turkish newborn. The fda says that the health care professional may evaluate the patients symptoms to determine the. Tufting enteropathy te is a rare cause of congenital intractable. Aug 10, 2006 tufting enteropathy intestinal epithelial dysplasia, a rare congenital enteropathy, presents in the first few months of life with chronic watery diarrhoea and impaired growth. A rare association with arthritis has been observed with a handful of cases documented in the literature.
Congenital tufting enteropathy is a rare congenital enteropathy presenting with earlyonset severe and intractable diarrhea that leads to irreversible intestinal failure. Intestinal epithelial dysplasia tufting enteropathy orphanet. Microvillus inclusion disease and tufting enteropathy. British society of paediatric gastroenterology, hepatology. Identification of epcam as the gene for congenital tufting. Mucosal inflammation as a component of tufting enteropathy.
Enteropathy definition and meaning collins english dictionary. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for tufting. Tufting enteropathy te, also known as intestinal epithelial dysplasia ied, is a rare congenital. Tufting enteropathy with epcam mutations in two siblings. Tufting enteropathy is a rare autosomal recessive disorder presenting with earlyonset severe intractable diarrhea. The prognosis of this previously fatal condition has been transformed by daily parenteral nutrition pn, and. This is the place where the most difficult challenges are faced head on, where the impossible becomes possible, and where families in search of answers find them.
Pdf mucosal inflammation as a component of tufting enteropathy. Pdf tufting enteropathy with epcam mutations in two siblings. Our case differs as the arthritis described is erosive in nature, a feature which is not present in other. The 3 children presented at 1, 2, and 4 weeks of age, respectively, with protracted watery diarrhea with volumes in excess of 1,500 mlday and impaired growth velocity. Malta, being a small mediterranean island at the cusp between. Epithelial cell adhesion molecule epcam on chromosome 2 2p21 and spint2 on chromosome 19. The molecular basis for this condition is not known. Intestinal epithelial dysplasia tufting enteropathy. Enteropathy definition of enteropathy by merriamwebster. Pdf genetic analysis of italian patients with congenital tufting. Congenital tufting enteropathy cte is a rare form of intractable diarrhea that develops within days after birth. Protein losing enteropathy an overview sciencedirect topics.
Infants and children with this disease usually need specialized intravenous nutrition parenteral nutrition. Enteropathy definition is a disease of the intestinal tract. Matriptase drives earlyonset intestinal failure in a mouse. Tufting enteropathy was first described by reifen and coworkers, 79 and then by goulet and colleagues. Tufting enteropathy genetic and rare diseases information center.
The pathogenesis and genetics of this disorder are not well understood. Enteropathy definition of enteropathy by medical dictionary. Lossoffunction mutations of the human epcam gene trop1, tacstd1 have been indicated as the cause of cte. Congenital tufting enteropathy cte is a rare autosomal recessive diarrheal disorder presenting in the neonatal period. Furthermore, its association with chronic inflammatory arthropathy is rarely documented in the literature. A founder effect at the epcam locus in congenital tufting. For 150 years, families have come from around the corner and across the world, looking to boston childrens for answers. The classic and usually obvious consequences of the enteropathy are malabsorption with diarrhea, weight loss, and nutritional deficiencies. A rare cause of congenital diarrhea in a turkish newborn. We report our experience with a case of tufting enteropathy that developed an unusual skeletal dysplasia with an abnormal blood picture. To date, the pathogenic mechanism of olmesartanassociated enteropathy is still unknown.
Here, we show that the cteassociated earlyonset intestinal failure and. Management and prognosis of intestinal epithelial dysplasia. Reifen et al reported 2 additional cases in 1994 and coined the name congenital tufting enteropathy. Diarrhea 5, with tufting enteropathy, congenital conditions. Congenital tufting enteropathy with associated features abely et al. Syndromic congenital tufting enteropathy cte is a lifethreatening recessive human genetic disorder that is caused by mutations in spint2, encoding the protease inhibitor hai2, and is characterized by severe intestinal dysfunction. Printable tufting enteropathy intestinal epithelial. Congenital tufting enteropathy cte is a lifethreatening hereditary disease that is characterized by enteric mucosa tufting degeneration and early onset, severe diarrhea. Here we demonstrate that mutant epcam accumulated in the endoplasmic reticulum er where it colocalized with er chaperone.
Tufting enteropathy is an autosomal recessive congenital enteropathy presenting with earlyonset severe intractable diarrhea. Intestinal epithelial dysplasia tufting enteropathy is an uncommon congenital disorder. Intestinal epithelial dysplasia ied, also known as tufting enteropathy, is a congenital enteropathy presenting with earlyonset severe intractable diarrhea causing sometimes irreversible intestinal failure. G85p longterm outcome of survival, growth and intesitnal. Pdf mucosal inflammation as a component of tufting. Once an accurate diagnosis of spruelike enteropathy has been verified, the doctor usually has one recommendation for treating the condition, to discontinue the high blood pressure drug containing olmesartan. Cells free fulltext congenital tufting enteropathy. Evaluation of intestinal biopsies for pediatric enteropathy. Tufting enteropathy symptoms, causes, diagnosis, and treatment information for tufting enteropathy intestinal epithelial dysplasia with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis.
Celiac disease cd also called glutensensitive enteropathy and nontropical sprue is a known entity since 1888 when first described by samuel gee in a report titled on the coeliac affection although description of a chronic, malabsorptive disorder by aretaeus from turkey reaches as far back as the second century ad. New mutations of epcam gene for tufting enteropathy in saudi. To date, no epidemiological data are available, however, the prevalence can be estimated at around 150,000100,000 live births in western europe. Apr 01, 2017 congenital tufting enteropathy is a rare congenital enteropathy presenting with earlyonset severe and intractable diarrhea that leads to irreversible intestinal failure. Tufting enteropathy intestinal epithelial dysplasia, a rare congenital enteropathy, presents in the first few months of life with chronic watery diarrhoea and impaired growth. Pdf tufting enteropathy te, also known as intestinal epithelial dysplasia ied, is a rare congenital enteropathy related to an earlyonset of severe. Low prevalence rates of 1 in 100,000 live births in western europe exist, with higher rates in north africa and middle eastern countries. Epidemiology no epidemiological data is available, however, the prevalence can be estimated at around 1200,000 births in europe. Tufting enteropathy intestinal epithelial dysplasia. Characterization phenotypic and genetic study of the. Congenital tufting enteropathy is a rare condition which presents in early infancy. Wellrecognized gastrointestinal gi disorders broadly responsive to antibiotics may be found in box 1261.
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. Characterization phenotypic and genetic study of the intestinal epithelial dysplasia or tufting enteropathy te dei the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Tufting enteropathy genetic and rare diseases information. We recently reported the generation of a spint2 deficient mouse model of cte.
Based on histology, a diagnosis of tufting enteropathy was made in two korean siblings. Infants and children with this disease usually need specialized intravenous nutrition parenteral nutrition in order to grow normally and avoid dehydration. It is a condition which should be suspected in infants who present with diarrhoea soon after birth. Here we establish spint2, previously ascribed to congenital sodium diarrhea, as a second gene associated with cte and report molecular and immunohistochemistry data in 57 cte patients. The epithelial cell adhesion molecule gene epcam has recently been identified as the gene responsible for tufting enteropathy. Superficial punctate keratitis and conjunctival erosions. Wed like to understand how you use our websites in order to improve them. Absence of cellsurface epcam in congenital tufting enteropathy. Bilateral total hip and unilateral knee arthroplasties in a. Antibioticresponsive enteropathy are denotes a clinical syndrome characterized by acute or chronic diarrhea in animals that responds to antibiotic treatment hall, 2011. Congenital chronic diarrhea, intestinal failure, intestinal transplant, saudi arabia, tufting enteropathy. Pdf intestinal epithelial dysplasia ied, also known as tufting enteropathy, is a. Congenital tufting enteropathy is a wellrecognized disease among the syndrome of intractable diarrhea in infancy. Tufting enteropathy te is a congenital abnormality of intestinal mucosa development characterized by severe intestinal failure requiring parenteral nutrition pn and, in some cases, small bowel.
Journal of veterinary internal medicine american college of. Affected patients p1 and p2 are double second cousins. Tufting enteropathy te is an uncommon disease causing intractable diarrheas starting in early childhood and resulting in failure to thrive, dependence on total parenteral nutrition, and. Enteropathy article about enteropathy by the free dictionary.
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