NephMadness 2015: Genetics • Second Round Results
Autosomal Dominant Tubulointerstitial Nephritis vs Epigenetics Winner: Autosomal Dominant Tubulointerstitial Nephritis 4-3 split UMOD & MUC1 Nephropathy were unknowns [...]
This is a group of familial disorders inherited in an autosomal dominant manner characterized by having a bland urine, minimal hematuria and proteinuria with progressive CKD. The kidney biopsy shows a tubulo-interstitial pattern of injury with a variable amount of interstitial fibrosis. Mutations have been identified in the following genes: Uromodulin (UMOD), Mucin1 (MUC1), Renin (REN), and hepatocyte nuclear factor 1B (HNF1B).
Copyright © 2023 Powered by WordPress.com.