Related Experiment Video
Updated: Jun 27, 2025
07:35
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
11.5K
Polycystic liver disease: An uncommon genetic condition
Faten Limaiem1,2, Mohamed Hajri1,3
1Tunis Faculty of Medicine University of Tunis El Manar Tunis Tunisia.
Clinical Case Reports
|May 7, 2024
Summary
Polycystic liver disease (PLD) is a rare genetic disorder causing numerous liver cysts. This case highlights severe abdominal pain as a presenting symptom, emphasizing the need for prompt diagnosis and management.
Area of Science:
- Hepatology
- Genetics
- Medical Case Reports
Background:
- Polycystic liver disease (PLD) is an uncommon genetic disorder.
- Characterized by the development of more than 20 liver cysts.
- Typically asymptomatic, affecting only 5% of individuals.
Observation:
- This report details a case of PLD.
- The patient presented with severe abdominal pain.
- This symptom led to the diagnosis of PLD.
Findings:
- Surgical intervention is the primary treatment for symptomatic PLD.
- Early recognition and diagnosis are crucial for managing complications.
- Accurate diagnosis and timely management improve patient outcomes.
Implications:
- Highlights the importance of considering PLD in patients with severe abdominal pain.
- Underscores the role of surgical intervention in managing symptomatic PLD.
- Emphasizes the need for timely diagnosis and management to prevent complications.
Related Concept Videos
01:23Cystic Fibrosis: Pathogenesis
222
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
222
01:26Diseases of the Liver and Gallbladder
527
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.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
527
01:58Cell Specific Gene Expression
13.6K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
13.6K
01:20Inborn Errors of Metabolism
156
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...
156
01:11Genetic Lingo
102.7K
Overview
102.7K
01:35Pedigree Analysis
84.2K
Overview
84.2K