A Case of TypeI Glanzmann's Thrombasthenia Diagnosed by Flow Cytometry
Journal of the Korean Pediatric Society
; : 133-137, 1999.
Article
em Ko
| WPRIM
| ID: wpr-140420
Biblioteca responsável:
WPRO
ABSTRACT
Glanzmann's thrombasthenia is a rare autosomal recessive hemorrhagic disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein IIb-IIIa, which functions as a receptor for fibrinogen. We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. Bleeding time was prolonged in the presence of normal platelet levels and the platelet aggregation test showed lack of aggregation after exposure to ADP, epinephrine and collagen, but showed an aggregation response to ristocetin. Platelet analysis by flow cytometry is a successful alternative rapid diagnostic technique for Glanzmann's thrombasthenia patients as well as for carriers of this disease. Flow cytometry technique provides an effective tool for investigating platelet function defects caused by altered expression or deficiency of platelet surface proteins.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Tempo de Sangramento
/
Plaquetas
/
Trombastenia
/
Fibrinogênio
/
Glicoproteínas
/
Ristocetina
/
Epinefrina
/
Membrana Celular
/
Difosfato de Adenosina
/
Agregação Plaquetária
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
Ko
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
1999
Tipo de documento:
Article