Furthermore, its association with chronic inflammatory arthropathy is rarely documented in the literature. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for tufting. Printable tufting enteropathy intestinal epithelial. The classic and usually obvious consequences of the enteropathy are malabsorption with diarrhea, weight loss, and nutritional deficiencies. 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.
Tufting enteropathy genetic and rare diseases information center. Epidemiology no epidemiological data is available, however, the prevalence can be estimated at around 1200,000 births in europe. For 150 years, families have come from around the corner and across the world, looking to boston childrens for answers. To date, the pathogenic mechanism of olmesartanassociated enteropathy is still unknown. We recently reported the generation of a spint2 deficient mouse model of cte. 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 and chronic arthritis. G85p longterm outcome of survival, growth and intesitnal.
Superficial punctate keratitis and conjunctival erosions. 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. Apr 01, 2017 congenital tufting enteropathy is a rare congenital enteropathy presenting with earlyonset severe and intractable diarrhea that leads to irreversible intestinal failure. Congenital tufting enteropathy cte is a lifethreatening hereditary disease that is characterized by enteric mucosa tufting degeneration and early onset, severe diarrhea. 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. Congenital tufting enteropathy is a rare condition which presents in early infancy. Congenital tufting enteropathy cte, an inherited autosomal recessive rare disease, is a severe. The molecular basis for this condition is not known. A founder effect at the epcam locus in congenital tufting. 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. Intestinal epithelial dysplasia tufting enteropathy. A rare association with arthritis has been observed with a handful of cases documented in the literature.
Congenital tufting enteropathy with associated features abely et al. Enteropathy definition of enteropathy by merriamwebster. Epidemiology no epidemiological data is available, however, the prevalence can be. Intestinal epithelial dysplasia tufting enteropathy orphanet. Pdf tufting enteropathy te, also known as intestinal epithelial dysplasia ied, is a rare congenital enteropathy related to an earlyonset of severe. 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. Two genes have been associated with this condition. Previously, a murine cte model showed mislocalization of epcam away from the basolateral cell surface in the intestine. Congenital tufting enteropathy cte is a rare autosomal recessive diarrheal disorder presenting in the neonatal period. 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. The epithelial cell adhesion molecule gene epcam has recently been identified as the gene responsible for tufting enteropathy. Absence of cellsurface epcam in congenital tufting enteropathy. Journal of veterinary internal medicine american college of.
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. Affected patients p1 and p2 are double second cousins. Mucosal inflammation as a component of tufting enteropathy. 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.
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. It is a condition which should be suspected in infants who present with diarrhoea soon after birth. Pdf a rare cause of congenital diarrhea in a turkish newborn. 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. Reifen et al reported 2 additional cases in 1994 and coined the name congenital tufting enteropathy. Management and prognosis of intestinal epithelial dysplasia. Malta, being a small mediterranean island at the cusp between. Pdf intestinal epithelial dysplasia tufting enteropathy. The prognosis of this previously fatal condition has been transformed by daily parenteral nutrition pn, and intestinal transplantation. G85p longterm outcome of survival, growth and intesitnal failure. 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 occurs when the surface cells lining the intestine do not develop normally causing an inability to absorb fluid and nutrients entering the intestine. Based on histology, a diagnosis of tufting enteropathy was made in two korean siblings.
Congenital tufting enteropathy cte is a rare chronic diarrheal disease of infancy caused by mutations in epithelial cell adhesion molecule epcam. Tufting enteropathy genetic and rare diseases information. Genetic characterization of congenital tufting enteropathy. Epithelial cell adhesion molecule epcam on chromosome 2 2p21 and spint2 on chromosome 19. Antibioticresponsive enteropathy are denotes a clinical syndrome characterized by acute or chronic diarrhea in animals that responds to antibiotic treatment hall, 2011. Intestinal epithelial dysplasia tufting enteropathy is an uncommon congenital disorder. Pdf mucosal inflammation as a component of tufting. Identification of epcam as the gene for congenital tufting. Tufting enteropathy was first described by reifen and coworkers, 79 and then by goulet and colleagues. Tufting enteropathy intestinal epithelial dysplasia, a rare congenital enteropathy, presents in the first few months of life with chronic watery diarrhoea and impaired growth. Congenital tufting enteropathy is a wellrecognized disease among the syndrome of intractable diarrhea in infancy. Cte is characterized by intestinal epithelial cell dysplasia leading to severe malabsorption and signi. Tufting enteropathy is an autosomal recessive congenital enteropathy presenting with earlyonset severe intractable diarrhea.
Here, we show that the cteassociated earlyonset intestinal failure and. To date, no epidemiological data are available, however, the prevalence can be estimated at around 150,000100,000 live births in western europe. The fda says that the health care professional may evaluate the patients symptoms to determine the. The prognosis of this previously fatal condition has been transformed by daily parenteral nutrition pn, and. Matriptase drives earlyonset intestinal failure in a mouse. A rare cause of congenital diarrhea in a turkish newborn. Wed like to understand how you use our websites in order to improve them. Cells free fulltext congenital tufting enteropathy. Tufting enteropathy with epcam mutations in two siblings. Pdf intestinal epithelial dysplasia ied, also known as tufting enteropathy, is a. Characterization phenotypic and genetic study of the. Congenital tufting enteropathy cte, mim 6217, also known as intestinal epithelial dysplasia, is a rare congenital enteropathy presenting as earlyonset severe watery diarrhea.
The pathogenesis and genetics of this disorder are not well understood. 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. 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. British society of paediatric gastroenterology, hepatology. Lossoffunction mutations of the human epcam gene trop1, tacstd1 have been indicated as the cause of cte. We report our experience with a case of tufting enteropathy that developed an unusual skeletal dysplasia with an abnormal blood picture. Pdf tufting enteropathy with epcam mutations in two siblings. Wellrecognized gastrointestinal gi disorders broadly responsive to antibiotics may be found in box 1261. Diarrhea 5, with tufting enteropathy, congenital conditions. Enteropathy definition is a disease of the intestinal tract. Bilateral total hip and unilateral knee arthroplasties in a. 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. 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. Pdf mucosal inflammation as a component of tufting enteropathy.
Infants and children with this disease usually need specialized intravenous nutrition parenteral nutrition. Intestinal epithelial dysplasia ied, also known as tufting enteropathy, is a congenital enteropathy presenting with earlyonset severe intractable diarrhea causing sometimes irreversible intestinal failure. Protein losing enteropathy an overview sciencedirect topics. 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. Microvillus inclusion disease and tufting enteropathy. Here we demonstrate that mutant epcam accumulated in the endoplasmic reticulum er where it colocalized with er chaperone. Enteropathy definition of enteropathy by medical dictionary. Evaluation of intestinal biopsies for pediatric enteropathy.
Congenital tufting enteropathy is a rare congenital enteropathy presenting with earlyonset severe and intractable diarrhea that leads to irreversible intestinal failure. Tufting enteropathy te, also known as intestinal epithelial dysplasia ied, is a rare congenital. Low prevalence rates of 1 in 100,000 live births in western europe exist, with higher rates in north africa and middle eastern countries. Tufting enteropathy is a rare autosomal recessive disorder presenting with earlyonset severe intractable diarrhea.
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. Generations are indicated by roman numerals on the left. Tufting enteropathy te is a rare cause of congenital intractable. Congenital tufting enteropathy cte is a rare form of intractable diarrhea that develops within days after birth. Congenital tufting enteropathy cte is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Infants and children with this disease usually need specialized intravenous nutrition parenteral nutrition in order to grow normally and avoid dehydration. Pdf genetic analysis of italian patients with congenital tufting. Congenital chronic diarrhea, intestinal failure, intestinal transplant, saudi arabia, tufting enteropathy. Cte is characterized by intestinal epithelial cell dysplasia leading to severe malabsorption and significant morbidity and mortality. 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. Our case differs as the arthritis described is erosive in nature, a feature which is not present in other. Conclusion children with tufting enteropathy have an increasing chance of. Further evidence for epcam as the gene for congenital tufting.
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