nephronophthisis 9

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

nephronophthisis 9 

NEPHROLOGY

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.  

References http://www.uniprot.org/uniprot/Q86SG6

http://www.omim.org/entry/613824

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