FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.

Chronic kidney disease (CKD) represents a major health burden. Its central feature of renal fibrosis is not well understood. By exome sequencing, we identified mutations in FAN1 as a cause of karyomegalic interstitial nephritis (KIN), a disorder that serves as a model for renal fibrosis.

[Karyomegalic interstitial nephritis: A new French case].

Karyomegalic interstitial nephritis (KIN) is a rare and slowly progressive chronic interstitial nephritis (CIN) (28 cases reported), described for the first time by Mihatsch et al. in 1979. Here, we report on a 50-year-old woman who presented with asymptomatic renal failure and mild proteinuria without hematuria.