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
en Zh
| WPRIM
| ID: wpr-879888
Biblioteca responsable:
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
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Índice:
WPRIM
Asunto principal:
Púrpura Trombocitopénica Trombótica
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Autoanticuerpos
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Proteínas ADAM
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Proteína ADAMTS13
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Anemia Hemolítica
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Mutación
Límite:
Child
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Child, preschool
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Humans
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Male
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2021
Tipo del documento:
Article