Hereditary Nephritis clinical features

Hereditary Nephritis, Shouted Alport syndrome, is a single-gene genetic diseases. There are three major characteristics of the disease, that is, chronic kidney disease, eye and ear diseases diseases. But not all patients at the same time there are three performance.
Kidney damage is the most prominent manifestations of hematuria, almost all patients have hematuria history, a microscope or gross hematuria. Proteinuria generally not heavy, a little nephrotic syndrome. Chronic renal function was conducted damages.
A high frequency of ear disorder of nerve deafness as the main feature, more bilateral deafness, it can be unilateral, early electric audiometry can be found, and then gradually increase, the majority of deaf patients with renal injury parallel .
Although there may be the eye disorder multiple lesions, but now that only the former spherical concave lens and macular center around the dense yellow or white particulate performance characteristics of this disease. The latter has occurred mainly observed in chronic renal dysfunction patients.
In addition to the above diseases, individual parents have also found that children with other organ systems (including nerve, muscle, blood, endocrine and amino acid metabolism) anomaly, which in certain anomalies (such as giant platelet disease) may be an integral part of this disease while some abnormality may coexist with the disease caused other genetic diseases, gene level study to be clarified. 