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Related Concept Videos

Hepatic Portal System01:21

Hepatic Portal System

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The hepatic portal system, a critical part of our circulatory framework, transports nutrient-laden, deoxygenated blood from the gastrointestinal tract and spleen to the liver. This ingenious system plays an indispensable role in maintaining our body's metabolic equilibrium.
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Hepatic Drug Excretion: Influencing Factors01:16

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The biliary system of the liver, crucial for bile secretion and drug excretion, comprises intrahepatic bile ducts that merge to form the common hepatic duct. This duct, carrying hepatic bile, combines with the cystic duct, draining the gallbladder and forming the common bile duct, which empties into the duodenum. Bile, produced by hepatic cells lining the bile canaliculi, is composed primarily of water, bile salts, pigments, electrolytes, and lesser amounts of cholesterol and fatty acids. Bile...
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Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

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Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
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Protein Import into the Peroxisomes01:27

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Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
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Inborn Errors of Metabolism01:20

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Hepatic Drug Excretion: Enterohepatic Cycling01:17

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Enterohepatic cycling involves the active secretion of drugs and their metabolites into the bile via transporters in the canalicular membrane of hepatocytes. This secretion is an integral part of the digestive process, releasing these substances into the gastrointestinal (GI) tract.
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Visualization and Analysis of Blood Flow and Oxygen Consumption in Hepatic Microcirculation: Application to an Acute Hepatitis Model
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[Acute hepatic porphyrias].

Friedhelm Sayk1, Lars Grasshoff2

  • 1Medizinische Klinik I, Allgemeine Innere Medizin, Universitätsklinikum Schleswig-Holstein Campus Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Deutschland. friedhelm.sayk@uksh.de.

Medizinische Klinik, Intensivmedizin Und Notfallmedizin
|January 4, 2023
PubMed
Summary

Acute hepatic porphyria (AHP) involves rare genetic disorders causing severe symptoms due to toxic metabolite buildup. Early diagnosis and management are crucial to prevent life-threatening crises and long-term health issues.

Keywords:
Abdominal painAcute intermittent porphyriaInborn genetic diseasesPorphyrinsδ‑Aminolaevulinic acid

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Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Context:

  • Acute hepatic porphyrias (AHP) are rare hereditary disorders of heme biosynthesis.
  • Accumulating neurotoxic metabolites cause multisystemic symptoms, including pain, autonomic dysfunction, and neurological impairment.
  • Acute, life-threatening crises can be triggered by infection, medication, fasting, or hormonal stimuli.

Purpose:

  • To highlight the diagnostic challenges of AHP due to nonspecific and multifaceted clinical presentations.
  • To emphasize the importance of high clinical suspicion for timely diagnosis, often missed in emergency departments.
  • To outline diagnostic work-up, emergency management, and long-term care strategies for AHP patients.

Summary:

  • Diagnosis requires urine metabolite measurement and high suspicion, as AHP is often overlooked.
  • Emergency management includes glucose/heme arginate infusions, symptomatic therapy, and strict avoidance of porphyrinogenic agents.
  • Post-diagnosis care involves porphyria centers for confirmation, education, genetic counseling, and emergency identification. Prophylactic therapies are available for frequent relapses.

Impact:

  • Improved diagnostic rates and reduced patient 'odyssey' through increased awareness and suspicion.
  • Enhanced emergency care protocols to prevent AHP crises and manage acute conditions effectively.
  • Better long-term patient outcomes via specialized care, genetic counseling, and targeted prophylactic treatments.