Alpha-1-Antitrypsin Deficiency
Definition and Epidemiology Print Section Listen The classical, most common form of alpha-1-antitrypsin (a1AT) deficiency is caused by homozygosity (ZZ) for the autosomal co-dominant Z mutant allele of a1AT.1 This…
Pancreatic Insufficiency and Cystic Fibrosis
Definitions and Epidemiology Print Section Listen Pancreatic insufficiency (PI) is a term used to define patients who have lost a significant amount (usually >95%) of pancreatic exocrine function and therefore…
Metabolic and Drug-Induced Liver Disease
Definitions and Epidemiology Print Section Listen Metabolic liver disease has traditionally referred to diseases that result from inborn errors of metabolism. These disorders are due to a single enzyme defect…
Liver Transplantation
Definitions and Epidemiology Print Section Listen Types of Liver Transplants Liver transplantation refers to the surgical replacement of a diseased liver with a donor-grafted organ. This is most commonly orthotopic…
Autoimmune Liver Disorders
Autoimmune Liver Disorders: Introduction Print Section Listen There are three liver diseases in which an autoimmune mechanism is primarily responsible for damage to the liver: autoimmune hepatitis (AIH), autoimmune sclerosing…
Acute and Chronic Pancreatitis
Definitions and Epidemiology Print Section Listen Inflammatory disorders of the pancreas are classified as acute or chronic. Acute pancreatitis is generally a reversible process with no significant permanent effects on…
Liver Failure and Portal Hypertension
Definition and Epidemiology Print Section Listen Acute liver failure (ALF) is a rare but devastating result of hepatic necrosis in previously healthy individuals. Hepatic function rapidly declines within days to…
Wilson’s Disease
Definitions and Epidemiology Print Section Listen Wilson’s disease is a human copper storage disease. Wilson’s results in the accumulation of toxic levels of copper in mainly the liver and secondarily…
Biliary Atresia
Abbreviations Print Section Listen BA: biliary atresia BASM: biliary atresia splenic malformation CXR: chest X-ray DISIDA: diisopropyl iminodiacetic acid; hepatobiliary scintigraphy ERCP: endoscopic retrograde cholangiopancreatography HPE: hepatoportoenterostomy MCT: medium-chain triglycerides…
Disorders of Gastrointestinal Motility
Disorders of Gastrointestinal Motility: Introduction Print Section Listen Gastrointestinal (GI) motility disorders (GMDs) are represented by a spectrum of conditions that range from benign prevalent disorders (gastroesophageal reflux (GER) and…
