Pearson syndrome
Pearson Syndrome
Pearson syndrome (pronunciation: /ˈpɪərsən ˈsɪndroʊm/) is a rare genetic disorder characterized by sideroblastic anemia and exocrine pancreatic insufficiency.
Etymology
The syndrome is named after American pediatrician and geneticist, Howard H. Pearson, who first described the condition in 1979.
Definition
Pearson syndrome is a mitochondrial disease that affects many parts of the body, especially the bone marrow and pancreas. It is characterized by sideroblastic anemia, a condition that prevents red blood cells from fully developing, and exocrine pancreatic insufficiency, which affects the pancreas' ability to digest food.
Symptoms
Symptoms of Pearson syndrome can vary greatly among individuals. They may include anemia, neutropenia, thrombocytopenia, failure to thrive, diarrhea, and pancreatic insufficiency.
Diagnosis
Diagnosis of Pearson syndrome is typically made through genetic testing, specifically for deletions in the mitochondrial DNA. Other diagnostic tests may include a complete blood count (CBC), bone marrow examination, and pancreatic function tests.
Treatment
There is currently no cure for Pearson syndrome. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include blood transfusions for anemia, pancreatic enzyme replacement therapy for pancreatic insufficiency, and other supportive treatments as needed.
Prognosis
The prognosis for individuals with Pearson syndrome varies. Some individuals may live into adulthood, while others may have a shortened lifespan due to complications such as infections or metabolic crisis.
See Also
External links
- Medical encyclopedia article on Pearson syndrome
- Wikipedia's article - Pearson syndrome
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