Elevated Aminotransaminases As the First Manifestation of Sarcoidosis

Sarcoidose is a rare disease in children. The aminotransaminase level is often normal to moderately elevated (2 to 3 folds of the normal level). We report the case of a child who presented an aminotransaminase level that was 10 times the normal level, as the first manifestation of sarcoidosis

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the gene implicated in CRD was identified. The diagnosis is often delayed because symptoms are nonspecific. Treatment and follow-up remain poorly defined

Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea

Publisher Copyright: © 2021 The Author(s) 2021. Published by Oxford University Press on behalf of European Crohn's and Colitis Organisation. All rights reserved. For permissions, please email: [email protected]: Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery diarrhoea and chloride loss. Inflammatory bowel disease [IBD] has been reported in individual patients with CLD and in scl26a3-deficient mice. Methods: We performed an international multicentre analysis to build a CLD cohort and to identify cases with IBD. We assessed clinical and genetic characteristics of subjects and studied the cumulative incidence of CLD-associated IBD. Results: In a cohort of 72 patients with CLD caused by 17 different SLC26A3 mutations, we identified 12 patients [17%] diagnosed with IBD. Nine patients had Crohn's disease, two ulcerative colitis and one IBD-unclassified [IBD-U]. The prevalence of IBD in our cohort of CLD was higher than the highest prevalence of IBD in Europe [p < 0.0001]. The age of onset was variable [13.5 years, interquartile range: 8.5-23.5 years]. Patients with CLD and IBD had lower z-score for height than those without IBD. Four of 12 patients had required surgery [ileostomy formation n = 2, ileocaecal resection due to ileocaecal valve stenosis n = 1 and colectomy due to stage II transverse colon cancer n = 1]. At last follow-up, 5/12 were on biologics [adalimumab, infliximab or vedolizumab], 5/12 on immunosuppressants [azathioprine or mercaptopurine], one on 5-ASA and one off-treatment. Conclusions: A substantial proportion of patients with CLD develop IBD. This suggests the potential involvement of SL26A3-mediated anion transport in IBD pathogenesis. Patients with CLD-associated IBD may require surgery for treatment failure or colon cancer.Peer reviewe

Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis

Background & Aims: PEDFIC 2, an ongoing, open-label, 72-week study, evaluates odevixibat, an ileal bile acid transporter inhibitor, in patients with progressive familial intrahepatic cholestasis. Methods: PEDFIC 2 enrolled and dosed 69 patients across two cohorts; all received odevixibat 120 μg/kg per day. Cohort 1 comprised children from PEDFIC 1, and cohort 2 comprised new patients (any age). We report data through 15 July 2020, with Week 24 of PEDFIC 2 the main time point analysed. This represents up to 48 weeks of cumulative exposure for patients treated with odevixibat from the 24-week PEDFIC 1 study (cohort 1A) and up to 24 weeks of treatment for those who initiated odevixibat in PEDFIC 2 (patients who received placebo in PEDFIC 1 [cohort 1B] or cohort 2 patients). Primary endpoints for this prespecified interim analysis were change from baseline to Weeks 22–24 in serum bile acids (sBAs) and proportion of positive pruritus assessments (≥1-point drop from PEDFIC 2 baseline in pruritus on a 0–4 scale or score ≤1) over the 24-week period. Safety monitoring included evaluating treatment-emergent adverse events (TEAEs). Results: In cohort 1A, mean change from PEDFIC 1 baseline to Weeks 22–24 of PEDFIC 2 in sBAs was -201 μmol/L (p <0.0001). For cohort 1B and cohort 2, mean changes from odevixibat initiation to weeks 22–24 in sBAs were -144 and -104 μmol/L, respectively. The proportion of positive pruritus assessments in the first 24-week period of PEDFIC 2 was 33%, 56%, and 62% in cohorts 1A, 1B, and 2, respectively. Most TEAEs were mild or moderate. No drug-related serious TEAEs occurred. Conclusions: Odevixibat in patients with progressive familial intrahepatic cholestasis was generally well tolerated and associated with sustained reductions in sBAs and pruritus. Clinical Trials Registration: This study is registered at ClinicalTrials.gov (NCT03659916). Impact and Implications: Disrupted bile flow is a hallmark feature of patients with progressive familial intrahepatic cholestasis and can result in build-up of bile constituents in the liver with spill over into the bloodstream; other effects that patients can experience include extremely itchy skin, and because not enough bile reaches the gut, patients can have problems digesting food, which may lead to poor growth. Odevixibat is an orally administered medication that shunts bile acids away from the liver. The current study, called PEDFIC 2, suggested that odevixibat can improve the problematic signs and symptoms of progressive familial intrahepatic cholestasis and was generally safe for patients

Transplantation hépatique pédiatrique et séroprévalence du virus de l'hépatite E

L'hépatite E (HE) est une maladie émergente dans les pays développés. Elle est souvent asymptomatique, surtout chez l'enfant. Un passage à la chronicité est possible chez les immunodéprimés. L'HE peut mimer un rejet de greffe. La prise en charge, différente, souligne l'importance du diagnostic chez le transplanté. Nous avons conduit cette étude de prévalence car les données pédiatriques sont pauvres en France. Dans cette étude retrospective menée à Lyon entre le 1er janvier 2010 et le 31 mai 2013, nous avons étudié la sérologie (IgG et IgM) et la PCR du virus de l'HE (VHE) chez 96 patients (84 transplantés hépatique et 12 transplantés Foie+Rein). Huit patients (8,3%, 62,5% filles, âge moyen 12,3 ans) était séropositifs. L'âge moyen post transplantation était de 10 ans (2-21 ,8 ans). L'étiologie principale de la transplantation était l'atrésie des voies biliaires. Sept d'entre eux étaient transplantés hépatiques. Il n'est pas retrouvé de différence entre les données épidémiologiques et cliniques de la population séropositive et celles de l'ensemble des greffés, en particulier sur l'immunosuppression (7/8 tacrolimus-50% bi thérapie). Il n'a pas été détecté d'HE chronique mais 1 patient présentait une cytolyse chronique (Adénovirus et EBV). Pour au moins 4/8 des patients la séroconversion a eu lieu après la transplantation. Il n'y a pas de différence de séroprévalence selon l'âge (0% <5 ans, 12,5%5-10 ans, 4% 10-15 ans, 9,1o/ô 15-20 ans et 12,5% >20 ans). En France, la prévalence de l'infection à HE chez les transplantés hépatique pédiatrique (ou foie/rein) est faible (8,3%). Elle est concordante avec les données européennesLYON1-BU Santé (693882101) / SudocSudocFranceF

Suivi de la personne porteuse de trisomie 21 tout au long de sa vie

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Qualité de vie à long terme après transplantation hépatique chez l'enfant

LYON1-BU Santé (693882101) / SudocSudocFranceF

ATTEINTES NEUROLOGIQUES ET PULMONAIRES ASSOCIEES AUX HEPATITES AUTO-IMMUNES (A PROPOS DE DEUX OBSERVATIONS)

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF