Search results for "Biliary atresia"
showing 6 items of 6 documents
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
2017
Genetic variants in the adenosine triphosphate-binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid-associated cholelithiasis, and intrahepatic cholestasis of pregnancy. The aim of this multicenter project was to collect information on onset and progression of this entity in different age groups and to assess the relevance of this disease for the differential diagnosis of chronic liver disease. Clinical and laboratory data of 38 patients (17 males, 21 females, from 29 families) with homozygous or (compound) heter…
The diagnostic significance of cholescintigraphy and ultrasound examination in cholestatic syndromes in infancy
1988
Thirty-three neonates and infants with cholestatic syndromes of various etiologies were evaluated by cholescintigraphy and ultrasound examinations. The results of these two diagnostic procedures were compared with the final diagnosis as confirmed by liver biopsy and/or laparotomy and the clinica follow-up of the infants. Fourteen patients had an obstructive cholangiopathy (11 biliary atresia, 2 choledochal cysts, 1 congenital choledochal stenosis), 13 had neonatal hepatitis, and 6 had cholestasis of another etiology. Typical ultrasonic and/or scintigraphic findings confirmed or excluded the need for surgical exploration in 28 patients. Thus, for must infants with cholestatic syndromes it is…
Focal nodular hyperplasia of the liver: an unusual association with diabetes mellitus in a child and review of literature
2010
Abstract Hepatic hemangioma, adenoma and focal nodular hyperplasia are the most frequent benign lesions of the liver, but they are all infrequent among pediatric population. The reports of focal nodular hyperplasia in children have recently increased in number, with many cases associated to drug intake, particularly to chemotherapy. We here describe, to our knowledge, the first case of focal nodular hyperplasia in association with diabetes mellitus in childhood.
Experimentally Induced Biliary Atresia by Means of Rotavirus‐Infection Is Directly Linked to Severe Damage of the Microvasculature in the Extrahepati…
2018
Abstract: Vascular damage has been reported to contribute to atresia formation in several diseases including biliary atresia. This study focused on the extrahepatic biliary plexus in experimental biliary atresia. Newborn BALB/cAnNCrl-pups were infected with rhesus rotavirus within 24 hr after birth to induce experimental biliary atresia. The extrahepatic biliary plexus was examined by confocal microscopy on whole-mount preparations, scored by three independent researchers, and further evaluated at the subcellular level with transmission electron microscopy. Imaging results revealed a progressive destruction of the extrahepatic biliary vascular plexus in the course of experimental biliary at…
The Italian experience on paediatric liver transplantation: 1988-1999 report
2002
Abstract Background. Liver transplantation is the treatment of choice for end-stage liver disease in both adult and paediatric patients. The Italian experience in paediatric liver transplantation during the period 1988–1999 is reported herein. Patients and methods. This report concerns 228 liver transplantations performed in 207 patients (100 male, 107 female, mean age 5.1±4.4 years) in 11 Italian centres. The mean waiting time on the transplantation list was 6. 1±8.9 months and the main indications for the procedure were biliary atresia, inborn metabolic disorders, liver cirrhosis, liver neoplasms, Alagille syndrome, and fulminant hepatic failure. Results. The cumulative survival rate was …