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Sclerosing cholangitis children

Jean Donadieu, Sébastien Héritier
DEFINITION: Langerhans cell histiocytosis (LCH) is defined by the association of a clinical and radiological involvement and a biopsy of a pathological tissue. Extension: it can affect any organ or system of the body but most commonly the bone (80% of cases), the skin (33%) and the pituitary (25%). Other organs are concerned such as liver, spleen, hematopoietic system and the lungs (15% each), lymph nodes (5-10%) and central nervous system (CNS) excluding the pituitary (2-4%). Natural history: the natural history of the disease is very heterogeneous, ranging from auto-regressive lesions to a disease affecting multiple organs with fatal consequences, while some lesions may be responsible for permanent sequels...
January 10, 2017: La Presse Médicale
E Ylinen, L Salmela, J Peräsaari, T Jaatinen, A Tenca, O Vapalahti, M Färkkilä, H Jalanko, K-L Kolho
AIM: The human leucocyte antigen (HLA) allele and haplotype frequencies of the Finnish population are unique because of the restricted and homogenous gene population. There are no published data on HLA genotype associations in paediatric autoimmune liver diseases in Scandinavia. This study characterised the HLA genotypes of children with autoimmune liver or biliary disease in Finland. METHODS: The study cohort comprised 19 paediatric patients (13 female) aged three years to 15 years treated for autoimmune liver or biliary disease at the Children's Hospital, Helsinki University Hospital, between 2000 and 2011, and followed up for four years and three months to 14...
October 19, 2016: Acta Paediatrica
Jacqueline Jossen, Rachel Annunziato, Hee-Sung Kim, Jaime Chu, Ronen Arnon
OBJECTIVES: Autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC) are progressive immune-mediated inflammatory diseases that may require liver transplant (LT). Outcomes in children undergoing LT for these diseases are poorly studied in the Pediatric End Stage Liver Disease (PELD) era. We aimed to characterize the outcome of LT in children with AIH and PSC. METHODS: Children ≤18 years with PSC or AIH who had a first, isolated LT from 2002-2012 were identified from the UNOS database...
October 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
Pamela L Valentino, Shanna Wiggins, Sarah Harney, Roshan Raza, Christine K Lee, Maureen M Jonas
OBJECTIVES: Data regarding pediatric primary sclerosing cholangitis (PSC) natural history are limited. We describe a large pediatric PSC cohort with longitudinal follow-up. METHODS: The present study records review of pediatric patients with PSC diagnosed between 1984 and 2014. RESULTS: N = 120 (63% M) ages 1 to 21 years (median 14 years) at diagnosis. 27% (31/113) had autoimmune sclerosing cholangitis (ASC), 24% had exclusive small duct PSC, METAVIR stage was F3-F4 in 41%...
December 2016: Journal of Pediatric Gastroenterology and Nutrition
Vratislav Smolka, Eva Karaskova, Oksana Tkachyk, Kvetoslava Aiglova, Jiri Ehrmann, Kamila Michalkova, Michal Konecny, Jana Volejnikova
BACKGROUND: Sclerosing cholangitis (SC) is a chronic cholestatic hepatobiliary disease with uncertain long-term prognosis in pediatric patients. This study aimed to evaluate long-term results in children with SC according to the types of SC. METHODS: We retrospectively followed up 25 children with SC over a period of 4-17 years (median 12). The diagnosis of SC was based on biochemical, histological and cholangiographic findings. Patients fulfilling diagnostic criteria for probable or definite autoimmune hepatitis at the time of diagnosis were defined as having autoimmune sclerosing cholangitis (ASC); other patients were included in a group of primary sclerosing cholangitis (PSC)...
August 2016: Hepatobiliary & Pancreatic Diseases International: HBPD INT
Tassos Grammatikopoulos, Melissa Sambrotta, Sandra Strautnieks, Pierre Foskett, A S Knisely, Bart Wagner, Maesha Deheragoda, Chris Starling, Giorgina Mieli-Vergani, Joshua Smith, Laura Bull, Richard J Thompson
BACKGROUND & AIMS: Neonatal sclerosing cholangitis (NSC) is a severe neonatal-onset cholangiopathy commonly leading to liver transplantation (LT) for end-stage liver disease in childhood. Liver biopsy findings histopathologically resemble those in biliary atresia (BA); however, in NSC extrahepatic bile ducts are patent, whilst in BA their lumina are obliterated. NSC is commonly seen in consanguineous kindreds, suggesting autosomal recessive inheritance. METHODS: From 29 NSC patients (24 families) identified, DNA was available in 24 (21 families)...
December 2016: Journal of Hepatology
Muriel Girard, Albane A Bizet, Alain Lachaux, Emmanuel Gonzales, Emilie Filhol, Sophie Collardeau-Frachon, Cécile Jeanpierre, Charline Henry, Monique Fabre, Loic Viremouneix, Louise Galmiche, Dominique Debray, Christine Bole-Feysot, Patrick Nitschke, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurelia Bertholet, Emmanuel Jacquemin, Alexandra Henrion-Caude, Sophie Saunier
Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have already been identified with a CLDN1 mutation, encoding a tight-junction protein. However, for the majority of patients, the molecular basis of NSC remains unknown. We identified biallelic missense mutations or in-frame deletion in DCDC2 in four affected children. Mutations involve highly conserved amino acids in the doublecortin domains of the protein. In cholangiocytes, DCDC2 protein is normally located in the cytoplasm and cilia, whereas in patients the mutated protein is accumulated in the cytoplasm, absent from cilia, and associated with ciliogenesis defect...
October 2016: Human Mutation
J Matthies, C Hünseler, R Ehren, R Volland, F Körber, B Hoppe, L T Weber, S Habbig
BACKGROUND: Shigatoxin-associated haemolytic uremic syndrome (STEC-HUS) is the most frequent cause of acute kidney injury in children worldwide. Extrarenal manifestations are the main determinants for both, short- and long-term prognosis of patients with STEC-HUS. PATIENTS: 46 patients treated over the last 10 years for STEC-HUS in a single center. METHODS: This retrospective study analysed the incidence and outcome of extrarenal manifestations in our cohort of children with STEC-HUS...
July 2016: Klinische Pädiatrie
Rodrigo Liberal, Diego Vergani, Giorgina Mieli-Vergani
Approximately 10% of children with autoimmune hepatitis (AIH) and 30% of those with sclerosing cholangitis (SC) require liver transplantation (LT). LT is indicated in patients who present with fulminant hepatic failure (ie, with encephalopathy) and in those who develop end-stage liver disease despite treatment. After LT, recurrent AIH is reported in approximately 30% of patients and recurrent SC in up to 50%. Diagnosis of recurrence is based on biochemical abnormalities, seropositivity for autoantibodies, interface hepatitis on histology, steroid dependence, and, for SC, presence of cholangiopathy...
September 2016: Liver Transplantation
Barath Jagadisan, Anshu Srivastava
Jaundice with pruritus is a manifestation of cholestasis. The defective biliary drainage causes accumulation of substances that are usually excreted in bile, which in turn causes pruritus. The exact nature of the pruritogen is under evaluation. However, lysophosphatidic acid is the current favourite. The causes of cholestasis can be broadly classified as intra or extrahepatic, with intrahepatic disorders being more often associated with pruritus. Cholestatic phase of acute viral hepatitis, progressive familial intrahepatic cholestasis, syndromic and non-syndromic paucity of intralobular bile ductules, drug induced cholestasis and sclerosing cholangitis (SC) are the common causes in children...
March 2, 2016: Indian Journal of Pediatrics
Paulina Krawiec, Agnieszka Pawłowska-Kamieniak, Elżbieta Pac-Kożuchowska, Agnieszka Mroczkowska-Juchkiewcz, Katarzyna Kominek
Coeliac disease and inflammatory bowel disease are chronic inflammatory conditions of gastrointestinal tract with complex aetiology with genetic, environmental and immunological factors contributing to its pathogenesis. It was noted that immune-mediated disorders often coexist. There is well-known association between coeliac disease and type 1 diabetes and ulcerative colitis and primary sclerosing cholangitis. However, growing body of literature suggests the association between coeliac disease and inflammatory bowel disease, particularly ulcerative colitis...
January 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Shikib Mostamand, Shauna Schroeder, Jacqueline Schenkein, Tamir Miloh
Infliximab (IFX) is commonly used to induce and maintain remission in inflammatory bowel disease (IBD). We report the first 2 cases of children with ulcerative colitis who had normal liver transaminases before IFX and were diagnosed with immunomediated hepatitis after IFX induction. Both the cases had negative antibodies for antinuclear, smooth muscle, and liver kidney microsome, with 1 patient having positive autoimmune serology (dsDNA) and overlap primary sclerosing cholangitis. IFX was discontinued and transaminases normalized without steroid administration...
July 2016: Journal of Pediatric Gastroenterology and Nutrition
Adriana T Rodrigues, Priscila M F Liu, Eleonora D T Fagundes, Thaís C N Queiroz, Pamela de Souza Haueisen Barbosa, Soraya L C Silva, Ana C Simões E Silva, Débora M Miranda, Alexandre R Ferreira, Luiz R Alberti
OBJECTIVES: This is a cohort study of 134 children and adolescents with a known diagnosis of autoimmune hepatitis (AIH). During follow-up, some of them developed autoimmune sclerosing cholangitis (ASC). This study describes the characteristics of the patients upon diagnosis, and their response to treatment and any complications, and compares the patients who developed ASC during follow-up (ASC group) with those who did not (AIH group). METHODS: A total of 73.1% of the patients were girls with a median age upon diagnosis of 10...
July 2016: Journal of Pediatric Gastroenterology and Nutrition
Laure Nizery, Christophe Chardot, Samira Sissaoui, Carmen Capito, Alexandra Henrion-Caude, Dominique Debray, Muriel Girard
Biliary atresia (BA) is a rare and severe inflammatory and obliterative cholangiopathy that affects both extra- and intrahepatic bile ducts. BA symptoms occur shortly after birth with jaundice, pale stools and dark urines. The prognosis of BA has dramatically changed in the last decades: before the Kasai operation most BA patients died, while nowadays with the sequential treatment with Kasai operation±liver transplantation BA patient survival is close to 90%. Early diagnosis is very important since the chances of success of the Kasai procedure decrease with time...
June 2016: Clinics and Research in Hepatology and Gastroenterology
Jisun Yoon, Seak Hee Oh, Hyun Jin Kim, Sang Hyoung Park, Byong Duk Ye, Suk-Kyun Yang, Kyung Mo Kim
PURPOSE: Primary sclerosing cholangitis (PSC) is a rare condition that can be associated with inflammatory bowel disease (IBD). The aim of this study was to evaluate PSC and its association with IBD in children. METHODS: We retrospectively enrolled 13 pediatric patients (<18 years) with PSC treated at Asan Medical Center between June 1989 and December 2013. Clinical findings and long-term outcomes were investigated. During the same period, the incidence of PSC among IBD patients was evaluated among 600 Crohn disease (CD) and 210 ulcerative colitis (UC) patients...
December 2015: Pediatric Gastroenterology, Hepatology & Nutrition
Matteo Bramuzzo, Stefano Martelossi, Giuliano Torre, Sabrina Cardile, Serena Arrigo, Silvia Vignola, Federica Ferrari, Giovanna Zuin, Maria Teresa Illiceto, Marco Gasparetto, Salvatore Pellegrino, Claudio Romano, Giuseppe Maggiore, Marcella Montico, Marina Aloi
OBJECTIVES: Autoimmune liver disease is reported in up to 7.8% of children with inflammatory bowel disease. A distinct inflammatory bowel disease phenotype has been suggested in adults and in small pediatric cohorts. The aim of the study was to evaluate the features of inflammatory bowel disease associated with autoimmune liver diseases and to analyze the characteristics of the liver disease. METHODS: Information on patients was obtained from the Italian Pediatric Inflammatory Bowel Disease Registry...
August 2016: Journal of Pediatric Gastroenterology and Nutrition
Lára Ósk Eggertsdóttir Claessen, Einar Stefán Björnsson, Óttar Már Bergmann, Sigurður Ólafsson
BACKGROUND/AIMS: Liver transplantation is an important treatment option for end-stage liver disease. Since liver transplantation is not performed in Iceland, patients are sent abroad for this procedure. The aim of this study was to investigate indications and results of liver transplantations for Icelandic patients. MATERIALS AND METHODS: The study was retrospective and included all patients in Iceland who had undergone liver transplantation from the first transplantation in 1984 to the end of 2012...
January 2016: Læknablađiđ
Olivier Chazouillères
BACKGROUND: Some patients present with features of both primary biliary cirrhosis (PBC) or primary sclerosing cholangitis (PSC) on the one hand and autoimmune hepatitis (AIH) on the other hand, either simultaneously or consecutively. The term 'overlap syndrome (OS)' is used to describe these settings, but lack of universal agreement on what precisely constitutes an OS has generated considerable confusion. The low prevalence of OS (roughly 10% of PBC or PSC) has made it impracticable to perform randomized controlled trials...
2015: Digestive Diseases
Guan Wee Wong, Michael A Heneghan
For many patients with autoimmune hepatitis (AIH), the presence of extrahepatic features is well recognised both at the time of presentation and during long-term follow-up. Concomitant 'autoimmune disorders' have been described in 20-50% of patients with AIH, both in adults and children. Indeed, the presence of these associated phenomena has been incorporated into both the original and revised International AIH group scoring systems as an aid to codifying the diagnosis. In acute index presentations, non-specific joint pains sometimes flitting in nature have been reported in 10-60% of patients, and while joint swelling is uncommon, rheumatoid arthritis and mixed connective tissue disease have been reported in 2-4% of patients with AIH...
2015: Digestive Diseases
Andreas E Kremer, Emmanuel Gonzales, Frank G Schaap, Ronald P J Oude Elferink, Emmanuel Jacquemin, Ulrich Beuers
OBJECTIVE: Pruritus is a common symptom of cholestatic liver disorders. The present study aimed at evaluating autotaxin (ATX), a lysophospholipase recently identified as potential cause for cholestatic pruritus, in pediatric cholestatic diseases presenting with or without itching. METHODS: A cohort of 45 children consisting of 14 patients experiencing itching (Alagille syndrome [n = 10], complete extrahepatic biliary atresia [n = 2], neonatal sclerosing cholangitis (n = 1), progressive familial intrahepatic cholestasis type 2 [n = 1]), 9 patients with bile acid synthesis defects (3β-hydroxy-C27-steroid-oxidoreductase [n = 7] and Δ-3-oxosteroid-5β-reductase deficiency [n = 2]), and 22 healthy children were studied...
April 2016: Journal of Pediatric Gastroenterology and Nutrition
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