Nephronophthisis-Related Ciliopathies

Marijn Stokman; Marc Lilien; Nine Knoers

Nephronophthisis-Related Ciliopathies

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2016 Jun 23 [updated 2023 Mar 2].

Authors

Marijn Stokman¹, Marc Lilien², Nine Knoers³

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya

Affiliations

¹ Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands
² Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands
³ Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands

PMID: 27336129
Bookshelf ID: NBK368475

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of nephronophthisis-related ciliopathies. The following are the goals of this overview.

Goal 1: Briefly describe the clinical characteristics of nephronophthisis-related ciliopathies.

Goal 2: Review the genetic causes of nephronophthisis-related ciliopathies.

Goal 3: Review the differential diagnosis of nephronophthisis-related ciliopathies with a focus on genetic conditions.

Goal 4: Provide an evaluation strategy to identify the genetic cause of a nephronophthisis-related ciliopathy in a proband (when possible).

Goal 5: Review management of nephronophthisis-related ciliopathies.

Goal 6: Inform genetic counseling of an individual with a nephronophthisis-related ciliopathy and their family members.

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Review