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Karyomegalic Nephropathy

Chris Larsen, MD renal pathologist at arkana laboratories
By Chris Larsen, MD

Jun 15, 2017

Karyomegalic Nephropathy

This kidney biopsy from a 41-year-old male with CKD is remarkable for the enlarged and pleomorphic tubular nuclei with focal intra-nuclear clearing. These findings are characteristic of karyomegalic nephropathy. Karyomegalic nephropathy is a rare etiology of progressive renal failure typically presenting in the third decade of life that has been linked to mutations in FAN1, a gene involved in DNA damage repair.1 Karyomegaly is not limited to the kidneys and has been described in other organs including brain, thyroid, lung, esophagus, arteries, among others.2

References:

1. Zhou W, Otto EA, Cluckey A, et al. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat Genet 2012; 44: 910-915.
2. Monga G, Banfi G, Salvadore M, et al. Karyomegalic interstitial nephritis: report of 3 new cases and review of the literature. Clin Nephrol 2006; 65: 349-355.

 

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