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Your search term(s) "alagille syndrome" returned 5 results.

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Rare Causes of Cholestasis. IN: Lindor, K.; Talwalkar, J., eds. Cholestatic Liver Disease. Totowa, NJ: Humana Press. 2008. pp 105-118.

This chapter on rare causes of cholestasis is from a book that offers health care providers an overview of cholestatic liver disease; cholestasis is defined as a liver disorder characterized by impaired bile flow. The chapter focuses on bile formation and transport, as well as rare cholestatic syndrome. The authors note that intrahepatic cholestasis can result from genetic defects of liver epithelial cells. They discuss specific conditions, including Alagille syndrome, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, Dubin-Johnson syndrome, Crigler-Najjar syndrome, cholestasis-lymphedema syndrome/Aagenaes syndrome, Northern American Indian cirrhosis, and arthrogyposis multiplex congenita, renal dysfunction, and cholestasis syndrome (ARC syndrome). The authors conclude that further characterization of these rare cholestatic diseases and the defective genes associated with them will aid in understanding hepatobiliary biology and other more common causes of intrahepatic cholestasis. 78 references.

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Biliary Disease in Infants And Children. IN: Clavien, P.; Baillie, J., eds. Diseases of the Gallbladder and Bile Ducts: Diagnosis and Treatment. 2nd ed. Williston, VT: Blackwell Publishing Inc. 2006. pp 377-409.

This chapter on biliary disease in infants and children is from a textbook that provides a comprehensive and critical approach to both established and new diagnostic and therapeutic modalities for diseases of the gallbladder and bile ducts. The author notes that in children, the nature of biliary disorders changes with the age of the child. For example, in newborns and infants, congenital and metabolic disease are the most common causes of jaundice; in older children, congenital lesions are still commonly seen, along with acquired lesions such as biliary strictures. Adolescent patients start to resemble their adult counterparts in the spectrum of biliary diseases. The author discusses the diagnostic approach to the child with jaundice, the pathogenesis and treatment strategies used for children with biliary atresia, treatment approaches for children with choledochal cysts, the various types of progressive familial intrahepatic cholestasis (PFIC), the pathological features of Alagille’s syndrome and its associated nonhepatic anomalies, the causes and management of calculous disease of the biliary tract in children, the biliary manifestations of cystic fibrosis in children, and the less common causes of biliary tract diseases in children, including primary sclerosing cholangitis, congenital hepatic fibrosis, and primary biliary tumors. The chapter includes a summary of objectives, a list of suggested readings, extensive references, and a set of self-test questions that focus on the material covered in the chapter. 13 figures. 6 tables. 179 references.

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Development and Function of the Pancreas, Bile Duct, and Gallbladder. IN: Ginsberg, G.; Ahmad, N.; Lichtenstein, G., eds. The Clinician’s Guide to Pancreaticobiliary Disorders. Thorofare, NJ: Slack Incorporated. 2006. pp 1-20.

This introductory chapter is from a comprehensive text that covers the epidemiology, pathophysiology, diagnosis, and management of disorders of the pancreatic and biliary systems. The authors of this chapter review the development and function of the pancreas, bile duct, and gallbladder. Specific topics include embryonic development; congenital abnormalities of the pancreas, including pancreas divisum, annular pancreas, heterotopic pancreas, and pancreatic agenesis, hypoplasia, and dysplasia; congenital abnormalities of the intrahepatic biliary ducts, including cystic disorders, autosomal recessive polycystic kidney disease or congenital hepatic fibrosis, Caroli’s syndrome, syndromic-Alagille syndrome, and nonsyndromic bile duct paucity; congenital abnormalities of the extrahepatic biliary ducts, including extrahepatic biliary atresia and choledochal cysts; congenital abnormalities of the gallbladder, including agenesis of the gallbladder, structural variations of the gallbladder, and heterotopic tissue in the gallbladder. For each condition, the authors provide a definition, a description of clinical manifestations and evaluation, and management approaches. The chapter is illustrated with black-and-white photographs. 11 figures. 3 tables. 15 references.

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Alagille Syndrome: A Symposium by the Staff of the Children's Hospital of Philadelphia. Tualatin, OR: Alagille Syndrome Alliance. 2005.

This CD-ROM program focuses on the diagnosis and treatment of Alagille Syndrome (AGS), a rare multi-symptom, genetic disorder. The Symposium features an introduction by David A. Piccoli, MD, Chief of Pediatric Gastroenterology and Nutrition at the Children's Hospital of Philadelphia (CHOP), and presentations on various aspects of AGS by nine physicians. The program also describes the international family support group and charitable organization that promotes education about understanding of AGS worldwide.

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Genetic Liver Disease. IN: U.S. Department of Health and Human Services. Action Plan for Liver Disease Research. Bethesda, MD: National Digestive Diseases Information Clearinghouse. 2004. pp. 109-118.

Genetic liver diseases include hereditary hemochromatosis, Wilson disease, the porphyries, cystic fibrosis, polycystic liver disease, alpha-1 antitrypsin deficiency, hereditary tyrosinemia, Alagille syndrome, and several neonatal cholestatic syndromes and inherited diseases of metabolism. This chapter on genetic liver disease is from the Action Plan for Liver Disease Research that was developed to advance research on liver and biliary diseases. The Action Plan was undertaken to identify areas of scientific opportunity to help direct research resources at the National Institutes of Health (NIH) toward practical goals in the prevention, diagnosis, and management of liver and biliary diseases. In this chapter, the authors first review the symptoms, complications, etiology, and mechanisms of injury of genetic liver diseases that tend to present in adolescence or adulthood: hemochromatosis, Wilson disease, the porphyries, cystic fibrosis, polycystic liver disease, and congenital hepatic fibrosis. The chapter then outlines recent research advances in the areas of pathogenesis, diagnosis, monitoring, and therapy of these genetic liver diseases. The authors provide specific research goals for these same diseases. A final section considers the steps that would assist in achieving these research goals, noting that a major opportunity to help advance research in each of these genetic liver diseases is the pursuit of molecular diagnosis and studies of genotype-phenotype comparisons. One chart summarizes the short (0 to 3 years), intermediate (4 to 6 years), and long-term (7 to 10 years) goals of research on these topics. 1 figure. 1 table.

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