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28-09-2024 | Polycystic Kidney Disease | Review

Diseases of the primary cilia: a clinical characteristics review

Authors: Bakri Alzarka, Olga Charnaya, Meral Gunay-Aygun

Published in: Pediatric Nephrology

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Abstract

Ciliopathies encompass a broad spectrum of diseases stemming from dysfunction of the primary (non-motile) cilia, present on almost all cells in the human body. These disorders include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, and multisystem ciliopathies such as Joubert, Meckel, Bardet-Biedl, Alström, oral-facial-digital syndromes, and skeletal ciliopathies. The majority of these ciliopathies are associated with fibrocystic kidney disease resulting in progressive kidney dysfunction. In addition, many ciliopathies are associated with extra-renal manifestations including congenital hepatic fibrosis, retinal dystrophy, obesity, and brain and skeletal anomalies. The diagnoses may be challenging due to their overlapping clinical features and molecular heterogeneity. To date, over 190 genes encoding proteins that localize to the primary cilia have been identified as disease-causing. This review will discuss the clinical features of the most frequently encountered disorders of primary cilia.
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Metadata
Title
Diseases of the primary cilia: a clinical characteristics review
Authors
Bakri Alzarka
Olga Charnaya
Meral Gunay-Aygun
Publication date
28-09-2024
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-024-06528-w