Hereditary Nephritis clinical features

Hereditary nephritis, called Alport syndrome, is a single-gene genetic diseases. There are three main characteristics of the disease, chronic kidney disease, eye and ear disorders disorders. However, not all patients at the same time there are three performance.
Kidney damage is the most prominent manifestations of hematuria, almost all patients with hematuria history, a microscope or gross hematuria. Generally not heavy proteinuria, a rare nephrotic syndrome. Chronic renal function was conducted damage.
Ear disease in high-frequency nerve deafness as the main feature, more bilateral deafness, but it can also be unilateral, early, hearing test can be found, and then gradually increase, the majority of deaf patients with renal injury parallel .
Although there may be the eye disease multiple lesions, but now that only the former spherical concave lens and macular centre around the dense yellow or white particulate performance characteristics of the disease. The latter has been seen in chronic renal dysfunction patients.
In addition to the above diseases, individual parents have also found that children with other organ systems (including nerves, muscles, blood, endocrine and metabolism of amino acids) anomaly, some of them unusual (such as the giant platelet disease) may be an integral part of the disease , and some other abnormality may coexist with the disease caused other genetic diseases, gene studies to be clarified.