FAN1 mutation and karyomegalic nephropathy in chronic kidney disease.

Abstract excerpt

Karyomegalic Interstitial Nephritis (KIN) is a rare hereditary cause of chronic kidney disease (CKD), resulting from autosomal recessive mutations in the FAN1 gene. Renal biopsy typically reveals severe interstitial fibrosis, tubular injury and glomerulosclerosis. Early and accurate diagnosis can guide appropriate management. We present a middle-aged euglycaemic, normotensive female who underwent renal biopsy,...

Topics

• Humans
• Female
• Nephritis, Interstitial
• Renal Insufficiency, Chronic
• Exodeoxyribonucleases
• Multifunctional Enzymes