Novel Homozygous FAN1 Mutation in a Familial Case of Karyomegalic Interstitial Nephritis.

Karyomegalic interstitial nephritis (KIN) is a rare genetic kidney disease associated with a mutation in gene and is often underdiagnosed. The histomorphology demonstrates chronic interstitial nephritis with tubular epithelial cells showing bizarre enlarged nuclei. We present a case report of a 47-year-old multiparous South-Indian woman presenting with bilateral pitting pedal oedema and mild hypertension.