Most genetic causes of tubulointerstitial disease are not associated with proteinuria such as uromodulin (UMOD) gene mutations which is associated with familial juvenile hyperuricaemic nephropathy or medullary cystic kidney disease type 2, mutations in the MUC1 gene that encodes the protein mucin-1 associated with medullary cystic kidney disease type 1 (minimal proteinuria can occur in these patients), mutation in the Ren gene encoding for renin associated with progressive kidney disease with low renin hypotension, and mutations in FAN1 gene associated with karyomegalic interstitial nephritis.
Thank you so much all for your kind reply. I also have another query, Does HIF and NfkB regulate Renal tubulointerstitial injury? If so, which major renoprotective proteins or genes are affected involved in maintenance of renal function and physiology? Is there any role/involvement of Interleukin in occurrence and progression of proteinuria or interstitial injury in kidneys?