New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

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 with enlarged tubular epithelial cell nuclei, which leads to a progressive decline of renal function. The prevalence of this disease is less than 1% of all biopsies, and its pathogenesis is unclear. KIN results from mutations in FAN1 (FANCD2/FANCI-Associated Nuclease 1), a gene involved in the DNA damage response pathway, particularly in the kidney. In this study, we report two Tunisian consanguineous families with KIN caused by mutations in the FAN1 gene.

Methods

Direct sequencing of the coding regions and flanking intronic sequences of t

SUBMITTER: Rejeb I 

PROVIDER: S-EPMC8201669 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature