Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 524-529, 2021.
Article
in Zh
| WPRIM
| ID: wpr-879888
Responsible library:
WPRO
ABSTRACT
A boy, aged 3 years and 8 months, had recurrent thrombocytopenia with hemolytic anemia for more than 3 years. The physical examination showed no enlargement of the liver, spleen, and lymph nodes or finger deformities. Laboratory results showed a negative result of the direct antiglobulin test, normal coagulation function, and increases in bilirubin, lactate dehydrogenase and reticulocytes. The results of von Willebrand factor-cleaving protease ADAMTS13 activity assay showed extreme deficiency, and antibody assay showed negative ADAMTS13 inhibitory autoantibodies. Next-generation sequence showed compound heterozygous mutation in the
Full text:
1
Index:
WPRIM
Main subject:
Purpura, Thrombotic Thrombocytopenic
/
Autoantibodies
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ADAM Proteins
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ADAMTS13 Protein
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Anemia, Hemolytic
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Mutation
Limits:
Child
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Child, preschool
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Humans
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Male
/
Newborn
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2021
Type:
Article