Autoszomális recesszív
Caused by changes in both copies of KNG1, leading to low or absent high-molecular-weight kininogen, a protein in the contact pathway of clotting.
Tünetek és jelek
Most people have no symptoms. The deficiency can show up as a prolonged activated partial thromboplastin time (aPTT) on clotting tests, and it can be misdiagnosed. It does not appear to increase bleeding.
Mit változtat a diagnózis
No treatment is usually needed. Knowing the cause of a prolonged aPTT can avoid unnecessary investigations. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
Fitzgerald trait; Fitzgerald trait kininogen deficiency, total, included; Flaujeac factor deficiency; Flaujeac trait, included; high-molecular-weight kininogen deficiency, congenital; HMWK; HMWK deficiency; kininogen deficiency; kininogen deficiency, high molecular weight and LOW molecular weight, included; kininogen deficiency, total; Williams trait, included
