nephronophthisis type 9

nephronophthisis type 9

An autosomal recessive, progressive tubulo-interstitial nephropathy (OMIM:613824), which is characterised histologically by renal tubule defects, basement membrane thickening, interstitial fibrosis and, in the advanced stages, medullary cysts, leading to end-stage renal disease.

Molecular pathology
Defects in NEK8, which encodes a protein kinase required for renal tubule integrity, cause nephronophthisis type 9.