nephronophthisis 9

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nephronophthisis 92016-11-27T13:24:04+00:00

nephronophthisis 9 


An autosomal recessive progressive tubulo-interstitial nephropathy (OMIM:613824) 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 of NEK8, which encodes a protein kinase required for renal tubule integrity, cause nephronophthisis 9.  


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