Book contents
- Liver Disease in Children
- Liver Disease in Children
- Copyright page
- Contents
- Contributors
- Preface
- Section I Pathophysiology of Pediatric Liver Disease
- Section II Cholestatic Liver Disease
- Chapter 8 Approach to the Infant with Cholestasis
- Chapter 9 Medical and Nutritional Management of Cholestasis in Infants and Children
- Chapter 10 Neonatal Hepatitis and Congenital Infections
- Chapter 11 Biliary Atresia and Other Disorders of the Extrahepatic Bile Ducts
- Chapter 12 Neonatal Jaundice and Disorders of Bilirubin Metabolism
- Chapter 13 Familial Hepatocellular Cholestasis
- Chapter 14 Alagille Syndrome
- Chapter 15 Intestinal Failure Associated Liver Disease
- Chapter 16 Diseases of the Gallbladder in Infancy, Childhood, and Adolescence
- Section III Hepatitis and Immune Disorders
- Section IV Metabolic Liver Disease
- Section V Other Considerations and Issues in Pediatric Hepatology
- Index
- References
Chapter 14 - Alagille Syndrome
from Section II - Cholestatic Liver Disease
Published online by Cambridge University Press: 19 January 2021
Book contents
- Liver Disease in Children
- Liver Disease in Children
- Copyright page
- Contents
- Contributors
- Preface
- Section I Pathophysiology of Pediatric Liver Disease
- Section II Cholestatic Liver Disease
- Chapter 8 Approach to the Infant with Cholestasis
- Chapter 9 Medical and Nutritional Management of Cholestasis in Infants and Children
- Chapter 10 Neonatal Hepatitis and Congenital Infections
- Chapter 11 Biliary Atresia and Other Disorders of the Extrahepatic Bile Ducts
- Chapter 12 Neonatal Jaundice and Disorders of Bilirubin Metabolism
- Chapter 13 Familial Hepatocellular Cholestasis
- Chapter 14 Alagille Syndrome
- Chapter 15 Intestinal Failure Associated Liver Disease
- Chapter 16 Diseases of the Gallbladder in Infancy, Childhood, and Adolescence
- Section III Hepatitis and Immune Disorders
- Section IV Metabolic Liver Disease
- Section V Other Considerations and Issues in Pediatric Hepatology
- Index
- References
Summary
Alagille syndrome (ALGS) is an autosomal dominant, multisystem disorder which was first described in 1969 by Daniel Alagille as a constellation of clinical features in five different organ systems [1]. The diagnosis was based on the presence of intrahepatic bile duct paucity on liver biopsy in association with at least three of the major clinical features: chronic cholestasis, cardiac disease (most often peripheral pulmonary stenosis), skeletal abnormalities (typically butterfly vertebrae), ocular abnormalities (primarily posterior embryotoxon), and characteristic facial features. Advances in molecular diagnostics have enabled an appreciation of the broader disease phenotype with recognition of renal and vascular involvement [2, 3]. There is significant variability in the extent to which each of these systems is affected in an individual, if at all [4, 5]. ALGS was originally estimated to have a frequency of one in 70,000 live births, though this was based on the presence of neonatal cholestasis. However, this is clearly an underestimate as molecular testing has demonstrated that many individuals with a disease-causing mutation do not have neonatal liver disease and the true frequency is likely closer to one in 30,000 [5].
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- Liver Disease in Children , pp. 222 - 241Publisher: Cambridge University PressPrint publication year: 2021
References
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