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