Thin Glomerular Basement Membrane Disease (Benign Familial Hematuria)
Presentation :
- hematuria without significant proteinuria or ensuing glomerulosclerosis
- Up to 5% of the population may be affected
Pathophysiology :
| - Mutations in type IV collagen causing GBM thinning akin to Alport Syndrome (Hereditary Nephritis) |
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Diagnostic Testing:
- Diagnosis can be made using electron microscopy of kidney biopsy material
- Usually a clinical diagnosis based on benign presentation and course (normal kidney function with microscopic hematuria and little or no proteinuria) and positive family history of similarly benign phenotype (family history of isolated hematuria without kidney failure)
Treatment :
- Management is supportive.
Prognosis:
- The disease has excellent long-term prognosis with rare progression to CKD.
References:
Created on: Saturday 08-12-2023