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
Dans Chinois
| WPRIM
| ID: wpr-879888
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
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Purpura thrombotique thrombocytopénique
/
Autoanticorps
/
Protéines ADAM
/
Protéine ADAMTS13
/
Anémie hémolytique
/
Mutation
Limites du sujet:
Enfant
/
Enfant d'âge préscolaire
/
Humains
/
Mâle
/
Nouveau-né
langue:
Chinois
Texte intégral:
Chinese Journal of Contemporary Pediatrics
Année:
2021
Type:
Article
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