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…
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…
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…
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…
