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