Clinical and Biological Characterization of Patients and Collection of Samples (THE-RNA)

Tricho-hepato-enteric Syndrome: From Abnormal RNA Decay to Disease Clinical and Biological Characterization of Patients and Collection of Samples -THE-RNA

Objectives: Collect clinical and biological data about patients with SD/THE, collect samples of patients; create a secure on line database to collect worldwide data about SD/THE Partners : APHM, HCL, APHP Currently10 patients (8 with TTC37 mutations and 2 with SKIV2l mutations) present a SD/THE and are managed in France in 5 different centers (Marseille, Paris Trousseau, Paris Necker, Paris Robert Debrés, and Lyon). Most of them are followed in hepato-gastro-enterology units for their intractable diarrhea. Three aspects of the disease: intractable diarrhea, immune defect and liver disease are responsible for the main part of the burden of the disease .For each aspect, the investigators will propose a close follow-up with collection of clinical, biochemical, functional and microbial data. Collect of clinical date: during a programmed consultation clinical data about symptom will be collected twice a year. A detailed form will be used for better delineation of the symptoms. These data included growth, symptom (diarrhea, pain …), and clinical signs. Most of these children have recurrent sample for follow up. During them some blood will be take for study the immune side but also the platelet function.

Existence or absence of 9 clinical signs suggestive of Tricho-hepato-enteric syndrome, to know: neonatal characteristics, existence or not of the 9 clinical signs suggestive of the disease, initial symptoms and chronology leading to the diagnosis, organ damage, nutrition, treatment, growth, dermatological evaluation, hepatic evaluation, neuropsychological evaluation (score of WPPSI-III, WISC-IV, WAIS-IV), quality of life scale (VSPA in children between 3 and 17 years old and WHOQUOL in adults), self-report anxiety scale (STAI in children over 8 years)

Inclusion Criteria: patient < 18 year-old patients with SD/THE control group : patients with tufting enteropathy and short bowel syndrome. Exclusion Criteria: child among whom the parents or the legal representatives refused that their child participates in this study