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Genetics and pathogenesis of nephronophthisis

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

INTRODUCTION

Nephronophthisis (NPHP) is an autosomal recessive genetically heterogenic disorder 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 and progression to end-stage renal disease (ESRD) generally before the age of 20 years

                    

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Literature review current through: Nov 2016. | This topic last updated: Wed Nov 30 00:00:00 GMT+00:00 2016.
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