New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01009-7
Abstract: Background Karyomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by Mihatsch et al. in 1979. KIN is characterized by chronic tubulointerstitial nephritis associated… read more here.
Keywords: mutations fan1; interstitial nephritis; karyomegalic interstitial; gene ... See more keywords
Novel Homozygous FAN1 Mutation in a Familial Case of Karyomegalic Interstitial Nephritis
Sign Up to like & getrecommendations! Published in 2020 at "Indian Journal of Nephrology"
DOI: 10.4103/ijn.ijn_278_19
Abstract: Karyomegalic interstitial nephritis (KIN) is a rare genetic kidney disease associated with a mutation in FAN1 gene and is often underdiagnosed. The histomorphology demonstrates chronic interstitial nephritis with tubular epithelial cells showing bizarre enlarged nuclei.… read more here.
Keywords: interstitial nephritis; karyomegalic interstitial; case; nephritis ... See more keywords