Autozomálně recesivní
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.
Příznaky a projevy
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.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
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
