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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 a clinical condition caused by a group of autosomal recessive cystic kidney disorders that typically progresses to end-stage renal disease (ESRD). It is caused by mutations in a large number of genes that encode proteins involved in the function of primary cilia, basal bodies, and centrosomes resulting in renal disease and extra-renal manifestations.

The clinical manifestations and management of NPHP will be reviewed here. The genetics and pathogenesis of NPHP are discussed separately. (See "Genetics and pathogenesis of nephronophthisis".)


Patients with NPHP have gene mutations that encode components of the ciliary apparatus [1]. These gene defects result in the following characteristic findings of NPHP (see "Genetics and pathogenesis of nephronophthisis"):

Autosomal recessive inheritance

Impaired urinary concentrating ability and sodium absorption resulting in polyuria and polydipsia

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Literature review current through: Nov 2017. | This topic last updated: Sep 14, 2017.
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