|
More about Alport Syndrome:
Definition Causes and symptoms Diagnosis Treatment Prognosis Prevention Resources |
Alport syndrome in most cases is caused by a defect in one or more genes located on the X chromosome. It is usually inherited from the mother, who is a normal carrier. However, in up to 20% of cases there is no family history of the disorder. In these cases, there appears to be a spontaneous genetic mutation causing Alport syndrome.
Blood in the urine (hematuria) is a hallmark of Alport syndrome. Other symptoms that may appear in varying combinations include:
- protein in the urine (proteinuria)
- sensorineural hearing loss
- eye problems [involuntary, rhythmic eye movements (nystagmus), cataracts, or cornea problems]
- skin problems
- platelet disorders
- abnormal white blood cells
- smooth muscle tumors
Not all patients with Alport syndrome have hearing problems. In general, those with normal hearing have less severe cases of Alport syndrome.
— Carol A. Turkington
