Karyomegalic interstitial nephritis
Definition:
Karyomegalic interstitial nephritis (KMIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria. It has been identified that mutations in FAN1 cause KMIN. The FAN1 protein has nuclease activity and acts in DNA interstrand cross-link (ICL) repair within the Fanconi anemia pathway.
References:
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[1]. Steven Law, et al. Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis. BMC Nephrol. 2020 Feb 28;21(1):74. [Content Brief]
[2]. Weibin Zhou, et al. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat Genet. 2012 Jul 8;44(8):910-5. [Content Brief]
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