Karyomegalic interstitial nephritis

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Synonyms: KIN | Systemic karyomegaly

A rare genetic renal disease characterized by slowly progressive chronic tubulointerstitial nephritis leading to end-stage renal disease before the age of 50 years manifesting with mild proteinuria glucosuria and occasionally urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations such as recurrent upper respiratory tract infections and abnormal liver function tests may be associated. Renal biopsy reveals severe chronic interstitial fibrosis and tubular changes as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged hyperchromatic nuclei.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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