Autoszomális domináns
Caused by a change in one copy of the COL4A1 gene, which makes part of type IV collagen, a key component of the basement membranes that support blood vessels. Changes are often inherited from a parent but can also arise de novo.
Tünetek és jelek
Small-vessel disease of the brain, which may show as porencephaly (fluid-filled spaces) present from fetal development or soon after birth, as infantile hemiparesis (weakness on one side), seizures, or haemorrhagic stroke, which can occur in adulthood. Eye features such as twisted retinal blood vessels, cataract and Axenfeld-Rieger anomaly can occur. Kidney involvement, muscle cramps and brain aneurysms can also occur, as in HANAC syndrome, and some carriers have few or no symptoms.
Mit változtat a diagnózis
Brain imaging and eye, kidney and blood pressure checks; avoiding anticoagulants, smoking, head trauma and contact sports where possible. Genetic counselling and testing of parents and relatives clarify who is at risk.
Vizsgált gének
5 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- brain small vessel disease 1 with or without ocular anomalies
- familial schizencephaly
- microangiopathy and leukoencephalopathy, pontine, autosomal dominant
- retinal arterial tortuosity
