Karyomegalic interstitial nephritis is a rare autosomal recessive disorder caused by mutations of the FAN1 gene. It is characterized by progressive renal failure with the histomorphological picture of a tubulointerstitial nephritis. Typical are enlarged cell nuclei of the proximal tubule epithelial cells.
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OMIM.ORG article Omim 613534 |
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Orphanet article Orphanet ID 401996 |