Pearson marrow pancreas syndrome
Pearson marrow pancreas syndrome is a rare genetic disorder that affects the bone marrow and pancreas. It is characterized by pancreatic insufficiency, anemia, and bone marrow failure. The syndrome is named after the British pediatrician, Howard Pearson, who first described it in 1979.
Etiology[edit | edit source]
Pearson marrow pancreas syndrome is caused by a deletion or rearrangement of mitochondrial DNA. This results in a deficiency of certain enzymes that are necessary for the normal function of the mitochondria, the energy-producing centers of the cell.
Clinical Features[edit | edit source]
The clinical features of Pearson marrow pancreas syndrome can vary widely. However, the most common symptoms include:
- Pancreatic insufficiency: This can lead to malabsorption of nutrients, resulting in poor growth and weight gain.
- Anemia: This can cause fatigue, weakness, and pale skin.
- Bone marrow failure: This can lead to a decreased production of all types of blood cells, resulting in an increased risk of infections, bleeding, and other complications.
Diagnosis[edit | edit source]
The diagnosis of Pearson marrow pancreas syndrome is based on the clinical features, laboratory tests, and genetic testing. The laboratory tests may show abnormalities in the blood cells and the levels of certain enzymes. Genetic testing can confirm the diagnosis by identifying the specific mitochondrial DNA deletion or rearrangement.
Treatment[edit | edit source]
The treatment of Pearson marrow pancreas syndrome is supportive and depends on the specific symptoms and complications. It may include enzyme replacement therapy for pancreatic insufficiency, blood transfusions for anemia, and stem cell transplantation for bone marrow failure.
Prognosis[edit | edit source]
The prognosis of Pearson marrow pancreas syndrome is generally poor, with most individuals not surviving past early childhood. However, some individuals may have a milder course of the disease and survive into adulthood.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Pearson marrow pancreas syndrome is a rare disease.
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