Wrodzony Niedobór prekalikreiny

Kod Orpha: 749Kod OMIM: 612423

Definicja

A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.

Dane
Klasyfikacja

Choroba

Kod ORPHA
749
Kod OMIM
612423
Kod ICD10
D68.8
Kod ICD11
3B15

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