| Description |
1 online resource : illustrations |
| Contents |
Intro; Preface; Acknowledgements; Contents; Contributors; Chapter 1: Alagille Syndrome: Overview and Introduction; Diagnosis of Alagille Syndrome and Jagged1 Mutation Status; Discovery of JAGGED1 Mutations as the Cause of ALGS: Implications for ALGS Patients; Family Considerations and Support; Summary; Suggested Reading; Chapter 2: Bile Duct Development and the Notch Signaling Pathway; Normal Intrahepatic Bile Duct Development; Cholangiocyte Specification; Cholangiocyte Morphogenesis; Refinement of Intrahepatic Bile Duct Architecture; The Notch Pathway |
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The Requirement of Notch during Intrahepatic Bile Duct DevelopmentNuances of Notch Signal Transduction that May Influence Intrahepatic Bile Duct Development; Threshold Sensitivity; Trans-Activation Versus Cis-Inhibition; Notch-Independent De Novo Intrahepatic Bile Duct Formation; Notch Pathway-Dependent Vascular Smooth Muscle Defects and the Role of RUMI; Key Points; References; Chapter 3: Genetics of Alagille Syndrome; JAG1 and NOTCH2; Haploinsufficiency of Notch Signaling in Disease Pathobiology; JAG1 and NOTCH2 Mutations; Clinical Testing for Alagille Syndrome |
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Variant Interpretation of JAG1 and NOTCH2 Missense MutationsVariable Expressivity of Alagille Syndrome; Genotype-Phenotype Correlations in Alagille Syndrome; Genetic Modifiers of Liver Disease Severity in Alagille Syndrome; Conclusions; References; Chapter 4: Liver Disease in Alagille Syndrome; Hepatic Disease in Alagille Syndrome; Clinical Features of Hepatic Disease in Alagille Syndrome; Biochemical Profile of Hepatic Disease in Alagille Syndrome; Diagnosis of Alagille Syndrome; Histopathologic Findings on Liver Biopsy in Alagille Syndrome |
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Imaging Studies in Patients with Hepatic Alagille SyndromeOutcomes of Hepatic Disease in Alagille Syndrome; Management of Hepatic Disease in Alagille Syndrome; Nutrition; Pruritus; Surgical Management of Cholestasis; Hypercholesterolemia Management; Portal Hypertension; Hepatocellular Carcinoma; Summary; References; Chapter 5: Transplant Considerations in Alagille Syndrome; Background/Introduction; Living-Related Liver Transplant in Alagille Syndrome; Multi-organ Transplant; Planning for Liver Transplantation; Abdominal Vascular Abnormalities; CNS Vascular Abnormalities; Cardiac Involvement |
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Previous Kasai OperationPrevious Biliary Diversion Operation; Post- liver Transplant Outcomes and Management; Conclusion; References; Chapter 6: Cardiac, Aortic, and Pulmonary Vascular Involvement in Alagille Syndrome; Spectrum and Frequency of Congenital Cardiovascular Disease Associated with Alagille Syndrome; Diagnostic Approach and Surveillance; Management; Outcomes; Conclusion; References; Chapter 7: Vascular Manifestations in Alagille Syndrome; Introduction; Normal Vascular Development; The Role of the Notch Signaling Pathway in Vascular Development |
| Summary |
This text provides a concise yet comprehensive overview of Alagille syndrome. The book reviews the pathophysiology and genetics of the disorder, discusses recent molecular advances and its impact on diagnostics, and describes management challenges and strategies. The text also touches upon future treatment options. Written by experts in the field, Alagille Syndrome: Pathogenesis and Clinical Management is a valuable resource for physicians and researchers dealing with this disorder, one that will help guide patient management and stimulate investigative efforts |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Online resource; title from PDF title page (EBSCO, viewed October 3, 2018) |
| Subject |
Genetic disorders.
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Liver -- Diseases -- Genetic aspects
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Heart -- Diseases -- Genetic aspects.
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Alagille Syndrome
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Genetic Diseases, Inborn
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Hepatology.
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Cardiovascular medicine.
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Gastroenterology.
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MEDICAL -- Genetics.
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Genetic disorders
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Heart -- Diseases -- Genetic aspects
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| Form |
Electronic book
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| Author |
Kamath, Binita M., editor
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Loomes, Kathleen M., editor
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| ISBN |
9783319945712 |
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3319945718 |
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9783319945729 |
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3319945726 |
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9783030068783 |
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3030068781 |
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