Intestinal Epithelial Dysplasia, Tufting Enteropathy
Conditions
Keywords
intestinal epithelial dysplasia, characterization phenotypic, genetic study, or " tufting enteropathy "
Brief summary
This PHRC is centred on the intestinal epithelial dysplasia ( DEI) or " tufting enteropathy " or TE the clinical and histo-pathological descriptions of which are specified well to the digestive plan(shot).
Detailed description
The objectives of this PHRC are: * the phenotypic analysis of the intestinal epithelial dysplasia by clinical and histo-pathological investigations. * the identification of proteins involved at the intestinal level in the differentiation, the proliferation and the membership of the epithelial cells * from the phenotypic study, a genetic analysis of type maps by homozygote on the whole genome partner in an approach guided by possible candidate genes * the study of the genes, chosen according to their location, to their profile of expression, and to their function in touch with the pathogenic hypotheses
Interventions
GENETICblood samples and skin biopsies
to detect mutations
GENETICSkin biopsies
to detect mutations
Sponsors
Assistance Publique - Hôpitaux de Paris
URC-CIC Paris Descartes Necker Cochin
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 15 Years
Healthy volunteers
No
Inclusion criteria
: Patient sent in the service of Gastroenterology Pediatric Hepatology of the Hospital Necker Enfants Malades for an intestinal transplantation, from 0 to 15 years old presenting: * A known epithelial dysplasia (Diagnosis established on the clinical and histo-morphological criteria from one or several intestinal biopsies, with or without diagnosis known or suspected in the family). The objectives are the phenotypic characterization of the case and the revealing of markers characteristic immuno-histochemistry which can be of use to the diagnosis and direct to candidate genes * Or a suspicion of dysplasia epithelial (compatible clinical History(Story) with or without extra-digestive demonstrations(appearances) of type keratinate punctuated superficial (KPS), abnormalities cutanea or atresia CHOANS with atypical digestive histology and without diagnosis known in the family). The objectives are the diagnosis on the basis of the immuno-histochemistry expression and the existence of an infringement(achievement) conjunctival and the phenotypic characterization of the case * The lit(enlightened) and written consent of both holders of the parental authority must be beforehand obtained as well as that of the patient if it is in age to understand(include).
Exclusion criteria
: * Not membership in a national insurance scheme (beneficiary or legal successor) * Family not understanding(including) French * Refusal of one of both relatives(parents)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| gene identification | 6 months | identification of different family of genes involved in intestinal dysplasia |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| mutation identification | 6 months | Identification of different mutations involved in intestinal dysplasia |
Countries
France
Contacts
PRINCIPAL_INVESTIGATOROlivier Goulet, MD, PhD
Assistance Publique Hopitaux de Paris
Outcome results
None listed