X-linked Alport syndrome
Name: |
X-linked Alport syndrome
|
Description: |
Alport syndrome (AS) is an inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane. |
ORPHAcode: |
88917
|
Created: |
08 May 2018 - 10:10
|
Changed: |
21 Jun 2021 - 17:19
|