Background: Partial External Biliary Diversion (PEBD) is a surgical intervention to treat children with Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome (AGS). PEBD can reduce disease progression, and examining the alterations in biliary lipid composition may be a prognostic factor for outcome.
Methods: Biliary lipid composition and the clinical course of AGS and PFIC patients were examined before and after PEBD.
Results: Pre-PEBD bile from AGS patients had greater chenodeoxycholic/cholic acid (CDCA/CA), bile salt, cholesterol and phospholipid concentrations than PFIC patients. AGS patients, and PFIC patients with familial intrahepatic cholestasis 1 (FIC1) genotype, responded better to PEBD than PFIC patients with bile salt export protein (BSEP) genotype. After successful PEBD, AGS patients have higher biliary lipid concentrations than PFIC patients and PEBD also increases biliary phospholipid concentrations in FIC1 patients.
Conclusion: Both AGS and FIC1 patients can benefit from PEBD, and preserved biliary phospholipid concentrations may be associated with better outcomes post-PEBD.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2585081 | PMC |
| http://dx.doi.org/10.1186/1471-230X-8-47 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseases.
Intractable Rare Dis Res
November 2024
APHM, Timone Children's Hospital, Department of Multidisciplinary Pediatrics, Marseille, France.
Advances in genetic testing over the past decades are driving a continuing increase in the diagnosis and reporting of rare genetic diseases, but no tool has yet been developed to aggregate published molecular and phenotypic data, a task that is nevertheless essential to optimize patient care. In this article, we present PytheasDB, an online database of published clinical data from patients with rare digestive diseases. At the time of writing (August 2024), the database contains data from 833 patients with progressive familial intrahepatic cholestasis or trichohepatoenteric syndrome, collected from 172 articles.
View Article and Find Full Text PDFA Case of Progressive Familial Intrahepatic Cholestasis Type-3.
Cureus
October 2024
Pediatrics, Narendra Modi Medical College and Sheth LG Hospital, Ahmedabad, IND.
Progressive familial intrahepatic cholestasis (PFIC) is a rare autosomal recessive disorder marked by severe, early-onset cholestasis due to genetic mutations in hepatobiliary transporters, leading to toxic bile acid accumulation and liver damage. PFIC is categorized into three types based on mutations in , , and genes. This case involves a five-year-old female with symptoms such as easy fatigability, coarse facial features, respiratory distress, pruritus, abdominal distension, dark-colored urine, pale stool, and generalized edema.
View Article and Find Full Text PDFNatural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis.
J Pediatr Gastroenterol Nutr
December 2024
Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.
Ubiquitin-specific protease 53 (USP53) is essential for formation of cellular tight junctions and variations in this gene disrupt the tight junctions, resulting in cholestasis. We describe the clinical manifestations and outcomes of patients with USP53 mutations from the Indian progressive familial intrahepatic cholestasis registry. All 29 patients who harbored mutations in the USP53 gene either in the homozygous, compound heterozygous, or heterozygous state and presented with cholestasis were included.
View Article and Find Full Text PDF[Progress in the treatment of progressive familial intrahepatic cholestasis].
Zhonghua Gan Zang Bing Za Zhi
September 2024
The Department of Infection Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
Progressive familial intrahepatic cholestasis (PFIC) is an important cause of liver-related death or transplantation in children. The PFIC spectrum is expanding, twelve types of PFIC are currently included in the Online Mendelian Inheritance in Man (OMIM) database. With the increase of PFIC types and the inconsistence of certain types in numbering, the current numbering classification of PFIC is confusing, so the experts in the field recommend using the corresponding mutant gene/ protein defect to name different type of PFIC except for PFIC type 1-3.
View Article and Find Full Text PDFMolecular alterations associated with pathophysiology in liver-specific ZO-1 and ZO-2 knockout mice.
Cell Struct Funct
October 2024
Department of Biochemistry, School of Medicine, Dokkyo Medical University.
The liver is a complex organ with a highly organized structure in which tight junctions (TJs) play an important role in maintaining their function by regulating barrier properties and cellular polarity. Dysfunction of TJs is associated with liver diseases, including progressive familial intrahepatic cholestasis (PFIC). In this study, we investigated the molecular alterations in a liver-specific ZO-1 and ZO-2 double-knockout (DKO) mouse model, which exhibits features resembling those of PFIC4 patients with mutations in the ZO-2 gene.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!