Developmental and Inherited Liver Disease

Alberto Quaglia, Eve A. Roberts, Michael Torbenson

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Scopus citations


A new section on the approach to diagnostic histological interpretation, is the overture to this chapter on inherited and developmental disorders. This initial section is split chronologically into the early neonatal and infantile period and later childhood and adulthood; with the intention of reflecting clinical practice as closely and succinctly as possible. Disorders of the biliary tree, bile formation and secretion, and hepatocyte metabolism are the core of this chapter, a merger of chapters 3 and 4 of the previous edition. Considerations on the pathogenetic and/or clinical overlap between developmental, genetic and metabolic disorders were the rationale behind this change. The complexity of hepatocyte metabolism is reflected into the miriad of related pathological conditions. Recent technological advances, particularly in genomics in the last five years, have resulted in a plethora of new entities and changes in terminology, challenging the authors to balance detail and application to clinical practice. Tables and figures from previous editions have been largely kept due to their quality and contemporary relevance, whilst new ones have been added to accommodate new advances (e.g. classification of mitochondrial disorders), a compromise to bridge between the two editions for the accustomed reader. Liver involvement in immunodeficiency and miscellaneous disorders precede the final section on anatomical anomalies. Vascular anomalies are now included in the chapters on vascular disorders.

Original languageEnglish (US)
Title of host publicationMacSween's Pathology of the Liver
PublisherElsevier Inc.
Number of pages164
ISBN (Print)9780702066979
StatePublished - Jul 28 2017


  • Atresia
  • Carbohydrate metabolism
  • Ciliopathy
  • Cystic fibrosis
  • Disorders of bile acid synthesis and transport
  • Mitochondrial disorders
  • Porphyria

ASJC Scopus subject areas

  • General Medicine


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