Diagnosis of congenital dysfibrinogenemia / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
; (12): 406-410, 2020.
Article
in Zh
| WPRIM
| ID: wpr-871907
Responsible library:
WPRO
ABSTRACT
Congenital dysfibrinogenemia (CD) is a hereditary disease that causes by the mutation of fibrinogen (Fg) gene, which result in abnormal of fibrinogen structure and function.Most of the mutations are dominant heredity which located at autosomal.The clinical manifestations of CD patients are highly diverse including asymptomatic, bleeding tendency, thrombophilia in some cases both bleeding tendency and thrombophilia coexist. As a result of highly diverse symptom the CD diagnosis mainly relies on laboratory tests. The result of coagulation test which has the best diagnostic value of CD was found to be fibrinogen antigen/activity ratio (PT-der/Clauss) greater than 1.43, thrombin time (TT) prolonged, prothrombin time (PT) and activated partial thromboplastin time (APTT)normal. According to patient′s clinical manifestations and coagulation function test results, combing with family history surveys diagnosis of CD can be made. Mass spectrometry can efficiently identify the type of fibrinogen defects in CD patients. And DNA sequencing can directly locate the site of mutation in fibrinogen gene.
Full text:
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Index:
WPRIM
Type of study:
Diagnostic_studies
/
Prognostic_studies
Language:
Zh
Journal:
Chinese Journal of Laboratory Medicine
Year:
2020
Type:
Article