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Clinical manifestations, diagnosis, and treatment of nephronophthisis

Patrick Niaudet, MD
Section Editors
Tej K Mattoo, MD, DCH, FRCP
Ronald D Perrone, MD
Deputy Editor
Melanie S Kim, MD


Nephronophthisis (NPHP) is an autosomal recessive, genetically heterogenic renal disease with identified mutations in a number of genes that encode proteins involved in the function of primary cilia, basal bodies, and centrosomes.

These gene defects result in the characteristic findings of NPHP:

Autosomal recessive inheritance

Reduced urinary concentrating ability with a bland urinary sediment

Chronic tubulointerstitial nephritis with renal cysts appearing after the age of nine years


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Literature review current through: Jul 2017. | This topic last updated: May 15, 2015.
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