Neonatal Sclerosing Cholangitis Associated with Autoimmune Phenomena

Meir, Maskit Bar; Hadas-Halperin, Irit; Fisher, Drora; Rosenmann, E.; Brautbar, Chaim; Branski, David; Faber, J.; Wilschanski, Michael

doi:10.1097/00005176-200003000-00024

Cited by 12 publications

(4 citation statements)

References 10 publications

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“…Neonatal forms of idiopathic SC have been described. Familial occurrence has been reported in two instances, and in approximately one third of neonatal cases, parenteral consanguinity was documented among parents, consistent with, but not identifying, an autosomal recessive origin (37,40–45). In contrast to SC appearing in late infancy or childhood, neonatal occurrences are accompanied by jaundice.…”

Section: Discussionmentioning

confidence: 93%

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North American Indian Cirrhosis in Children: A Review of 30 Cases

Drouin,

Russo,

Tuchweber

et al. 2000

J. pediatr. gastroenterol. nutr.

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BackgroundNorth American Indian childhood cirrhosis (NAIC) is a distinct, rapidly evolving form of familial cholestasis found in aboriginal children from northwestern Quebec. This is a retrospective review of the 30 patients treated in Quebec since the discovery of NAIC in 1970.MethodsThe clinical records and histologic samples from 30 patients were reviewed. Extensive metabolic, biochemical, viral, genetic, and radiologic studies were performed in most patients.ResultsGenetic analysis suggests autosomal recessive inheritance and a carrier frequency of 10% in this population. Gene mapping studies showed that the NAIC gene is located on chromosome 16q22. Typically, patients have neonatal cholestatic jaundice (70%) or hepatosplenomegaly (20%) with resolution of clinical jaundice by age 1 year but persistent direct hyperbilirubinemia. Portal hypertension was documented in 29 patients (91%). Variceal bleeding (15 patients, 50%) occurred as early as age 10 months. Surgical portosystemic shunting was performed in 13 of these 15 patients (87%); 4 (31%) rebled after 1 to 5 years. Fourteen patients died (47%). In 10 (71%), liver disease was the cause. Four children died of liver failure before liver transplantation became available. In transplanted livers, no recurrence of NAIC was observed after 1 to 10 years. Recognized infectious, metabolic, toxic, autoimmune, and obstructive causes of cirrhosis have been eliminated. The histologic features of NAIC show early bile duct proliferation and rapid development of portal fibrosis and biliary cirrhosis, suggesting a cholangiopathic phenomenon.ConclusionTogether with gene mapping studies showing that the NAIC gene is different from those of other familial cholestases, these observations suggest that NAIC is a distinct entity that could be classified as “progressive familial cholangiopathy.”

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Section: Discussionmentioning

confidence: 93%

“…Of note, approximately one quarter of children with SC have a clinical presentation and autoantibodies that closely mimic autoimmune hepatitis (37)(38)(39). However, the association of neonatal SC and autoimmune phenomena has been reported in only one infant with consanguineous parents (40).…”

Section: Figmentioning

confidence: 99%

North American Indian Cirrhosis in Children: A Review of 30 Cases

Drouin,

Russo,

Tuchweber

et al. 2000

J. pediatr. gastroenterol. nutr.

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“…Both have similar features in the first days of life, the particularities becoming more evident during the disease (38). The image scan for the gallbladder is normal in NSC, and histopathology reveals cholangitis at the level of intrahepatic and extrahepatic ducts and sometimes on the pancreatic duct (38,43,105). But, similar to BA, the mechanism of tissue damage remains unknown (43).…”

Section: Neonatal Sclerosing Cholangitismentioning

confidence: 99%

“…Even though the name of NSC and PSC is almost similar, the pathogenetic mechanism is different. NSC seems to be a distinct subgroup of childhood PSC, especially the forms that associate specific autoimmune phenomena like elevated IgG levels and a high titer of ANA and ASMA (43). NSC is associated with increased incidence of HLA B8 and DR3, molecules that present antigens to CD4 T helper lymphocytes, initiating the immune response, which denotes the importance of genetic and immunologic factors in the disease etiopathogenesis (40).…”

Section: The Immune System In Nscmentioning

confidence: 99%

Immune-mediated cholangiopathies in children: the need to better understand the pathophysiology for finding the future possible treatment targets

Grama,

Mititelu,

Sîrbe

et al. 2023

Front. Immunol.

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Cholangiopathies are defined as focal or extensive damage of the bile ducts. According to the pathogenetic mechanism, it may be immune-mediated or due to genetic, infectious, toxic, vascular, and obstructive causes. Their chronic evolution is characterized by inflammation, obstruction of bile flow, cholangiocyte proliferation, and progression toward fibrosis and cirrhosis. Immune-mediated cholangiopathies comprise primary sclerosing cholangitis (PSC), autoimmune cholangitis and IgG4-associated cholangitis in adults and biliary atresia (BA), neonatal sclerosing cholangitis (NSC) in children. The main purpose of this narrative review was to highlight the similarities and differences among immune-mediated cholangiopathies, especially those frequent in children in which cholangiocyte senescence plays a key role (BA, NSC, and PSC). These three entities have many similarities in terms of clinical and histopathological manifestations, and the distinction between them can be hard to achieve. In BA, bile duct destruction occurs due to aggression of the biliary cells due to viral infections or toxins during the intrauterine period or immediately after birth. The consequence is the activation of the immune system leading to severe inflammation and fibrosis of the extrahepatic biliary tract, lumen stenosis, and impairment of the biliary flow. PSC is characterized by inflammation and fibrosis of intra- and extrahepatic bile ducts, leading to secondary biliary cirrhosis. It is a multifactorial disease that occurs because of genetic predisposition [human leukocyte antigen (HLA) and non-HLA haplotypes], autoimmunity (cellular immune response, autoantibodies, association with inflammatory bowel disease), environmental factors (infections or toxic bile), and host factors (intestinal microbiota). NSC seems to be a distinct subgroup of childhood PSC that appears due to the interaction between genetic predisposition (HLA B8 and DR3) and the disruption of the immune system, validated by elevated IgG levels or specific antibodies [antinuclear antibody (ANA), anti-smooth muscle antibody (ASMA)]. Currently, the exact mechanism of immune cholangiopathy is not fully understood, and further data are required to identify individuals at high risk of developing these conditions. A better understanding of the immune mechanisms and pathophysiology of BA, NSC, and PSC will open new perspectives for future treatments and better methods of preventing severe evolution.

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Biliary Disease in Infants and Children

Superina¹

2006

Diseases of the Gallbladder and Bile Ducts

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In judicandus ye are a physician, in curando, a surgeon. The patient asks for cure -surgery -and not for theory -medicine -it is the doctor who needs the latter. That is: there can be no surgeon who is not also a physician; the latter begets the surgeon and the surgeon tests the physician by the result of his work. Paracelsus O B J EC T I V E S• Become familiar with the diagnostic approach to the child with jaundice • Understand the pathogenesis and treatment strategies used in children with biliary atresia • Classify and discuss the treatment strategies in children with choledochal cysts • List the varying types of progressive familial intrahepatic cholestasis (PFIC)

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Neonatal Sclerosing Cholangitis Associated with Autoimmune Phenomena

Cited by 12 publications

References 10 publications

North American Indian Cirrhosis in Children: A Review of 30 Cases

North American Indian Cirrhosis in Children: A Review of 30 Cases

Immune-mediated cholangiopathies in children: the need to better understand the pathophysiology for finding the future possible treatment targets

Biliary Disease in Infants and Children

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