Thin basement membrane disease pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
The molecular basis for thin basement membrane disease has yet to be elucidated fully; however, defects in type IV collagen have been reported in some families.[1][2]
Some individuals with TBMD are thought to be carriers for genes that cause Alport syndrome.[3]
References
- ↑ Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY (2003). "Thin basement membrane nephropathy". Kidney Int. 64 (4): 1169–78. doi:10.1046/j.1523-1755.2003.00234.x. PMID 12969134. Unknown parameter
|month=ignored (help) - ↑ Hou P, Chen Y, Ding J, Li G, Zhang H (2007). "A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy". Am. J. Nephrol. 27 (5): 538–44. doi:10.1159/000107666. PMID 17726307.
- ↑ Buzza M, Wang YY, Dagher H; et al. (2001). "COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome". Kidney Int. 60 (2): 480–3. doi:10.1046/j.1523-1755.2001.060002480.x. PMID 11473630. Unknown parameter
|month=ignored (help)