Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sclerosing cholangitis in childhood is a heterogeneous condition, which has different aetiologies. Sclerosing cholangitis may be inherited and diagnosed in the neonatal period (neonatal sclerosing cholangitis); it may present later with features of autoimmunity (autoimmune sclerosing cholangitis); or it may be associated with a variety of disorders, including Langerhans cell histiocytosis, immunodeficiency, psoriasis, cystic fibrosis, reticulum cell sarcoma and sickle cell anaemia. In contrast to the experience in adult patients, sclerosing cholangitis occurring as an individual disease (primary sclerosing cholangitis) is rare. The initiating events and possible pathogenic mechanisms differ in the various forms of sclerosing cholangitis and are still obscure. Treatment and prognosis depend on the type of sclerosing cholangitis present.
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PMID:Sclerosing cholangitis in the paediatric patient. 1149 76

Sclerosing cholangitis due to Langerhans cell histiocytosis (LCH) is a rare cause of end-stage liver disease, seen mainly in children. Only a few adult cases have been reported worldwide. Liver transplantation may be a viable treatment option for what is otherwise an irreversible condition. We describe a 65-year-old female with LCH who developed severe sclerosing cholangitis with jaundice, intractable pruritus and peritoneal disease. She underwent orthotopic liver transplantation with complete amelioration of symptoms and remained well 14 months following her operation. Explant histology confirmed LCH involvement with an associated extensive sclerosing cholangitis. Symptomatic LCH cholangiopathy is an emerging indication for liver transplantation in adults.
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PMID:Liver transplantation in an adult with sclerosing cholangitis due to Langerhans cell histiocytosis. 1648 84

Sclerosing cholangitis (SC) is a chronic cholestatic disease characterized by inflammation and obliterative fibrosis of the bile ducts, leading to biliary cirrhosis and ultimately to liver failure. Four main clinical forms can be distinguished in children: i) neonatal SC, most probably a genetic disease transmitted by autosomal recessive inheritance; ii) SC associated with strong features of autoimmunity (referred as autoimmune sclerosing cholangitis) with quite good response to immuno-suppression iii) primary SC of unknown etiology (i.e. without features of autoimmunity) and iv) SC secondary to various diseases, including Langerhans cell histiocytosis and immunodeficiencies. Ursodesoxycholic acid is considered the treatment of choice for all forms of SC but without proof of its effectiveness in preventing progression to secondary biliary cirrhosis. In patients with immunodeficiencies, early bone marrow transplantation is the only way to prevent secondary SC. Liver transplantation remains the only validated treatment in children with biliary cirrhosis. Recurrence of SC after liver transplantation has not been clearly demonstrated in children; however, recurrence of Langerhans cell histiocytosis with bile duct injury has been reported. For patients with severe immunodeficiency, a two-step liver then bone marrow transplantation protocol may be proposed.
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PMID:Specificities of sclerosing cholangitis in childhood. 2263 98

Langerhans cell histiocytosis (LCH) is a rare disease that usually affects children and young adults. Sclerosing cholangitis (SC) can occur in 10-15% of patients with disseminated form of the disease. Central diabetes insipidus (CDI) is a rare disorder that may be caused by a variety of diseases mainly LCH and germinoma especially in children. In this case report, a- 4-year-old girl who is a known case of CDI and a single bone lesion in the left humerus, presented with jaundice, abdominal distention and itching. The diagnosis of SC was made by histopathology on liver biopsy. In this case, we found a link between CDI and SC through LCH, the diagnosis of which was made by histopathology of the explanted liver. The combination of CDI, liver involvement with SC and a single bone lesion is remarkable, since the histological diagnosis of LCH was made outside the biliary tract in the liver parenchyma.
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PMID:Diabetes Insipidus and Sclerosing Cholangitis in a child may be a clue to the diagnosis of Langerhans' Cell Histiocytosis: A Case Report. 2442 52

Tfifha M, Kamoun T, Mama N, Mestiri S, Hassayoun S, Zouari N, Jemni H, Abroug S. Childhood sclerosing cholangitis associations in a Tunisian tertiary care hospital: a many-faceted disease. Turk J Pediatr 2019; 61: 905-914. Sclerosing cholangitis (SC) is a liver disorder affecting children and adults, causing chronic cholestasis and secondary biliary cirrhosis. The purpose of this study was to present different associated diseases to SC in a Tunisian tertiary care hospital. Six patients were identified with SC associated with other diseases, four males and two females. The first symptom was liver enlargement in all cases with abnormal liver biochemistry. A moderate increase in AST and ALT levels was registered in all cases with moderate cholestasis in 4 patients. Three of them presented an auto-immune condition. Two patients were diagnosed with auto-immune hepatitis prior to SC and Crohn disease in only one patient. One developed linear IgA bullous dermatosis. Three patients were diagnosed with Multisystemic Langerhans Cell Histiocytosis (LCH). The primary site of LCH was the liver associated secondary to insipidus diabetes (one case), mastoiditis (two cases) and chest localization (one case). The outcome of those patients was variable with poor prognosis especially for SC secondary to LCH. No patient underwent liver transplantation. SC is a rare disorder with variable clinical presentations. To our knowledge, this is the first report of this condition in Tunisian and North African children. Diagnosis and treatment of SC and its associations remains a challenge, especially because there is still no effective medical therapy aimed at preventing disease progression. Pediatric liver transplantation is the only life-extending therapeutic alternative for patients with end-stage liver failure. Liver transplantation has not been performed on young children in our country.
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PMID:Childhood sclerosing cholangitis associations in a Tunisian tertiary care hospital: a many-faceted disease. 3213 85