Article
New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.
BMC medical genomics - 14 Jun 2021
Rejeb Imen, Jerbi Mouna, Jilani Houweyda, Gaied Hanène, Elaribi Yasmina, Hizem Syrine, Aoudia Raja, Hedri Hafedh, Zaied Chiraz, Abid Salwa, Bacha Hassen, BenAbdallah Taieb, BenJemaa Lamia, Goucha Rim
Abstract excerpt
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...
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