What Are Common Causes of Congenital Aplastic Anemia?
Discussion
Aplastic anemia are disorders where there is inadequate production of erythrocytes, granulocytes and platelets caused by decreased bone marrow production leading to a peripheral blood pancytopenia. Most often it is acquired because of exposures to infections (especially viruses such as Epstein-Barr virus, rubella, herpes, etc.), drugs (e.g. chloramphenicol, chemotherapeutic agents, etc.), toxins or radiation.
Learning Point
The most common congenital bone marrow failure syndromes causing pancytopenia are (in this order) Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond anemia. Most have a variety of congenital abnormalities. They usually have an increased risk of malignancies. Treatment is usually monitoring, supportive (including colony stimulating factors, transfusions, etc.) and bone marrow and other transplantations.
Fanconi anemia
Cause is chromosome breakage and defective repair
Autosome recessive, few X-linked recessive
Pancytopenia is seen first decade of life
Congenital abnormalities – cafe-au-lait spots, short stature, abnormal radii and thumbs, microcephaly, renal abnormalities
Increased risk of malignancies is 50x general population – leukemia and squamous cell carcinoma
Diamond-Blackfan anemia
Caused by ribosomal protein mutations
Genetics is heterogeneous
This is a mainly a congenital red cell aplasia, but often has neutropenia and thrombocytenia. Diagnosed usually in first year of life.
Congenital abnormalities – sh...
Source: PediatricEducation.org - Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
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