Ciliopathies and the Kidney: A Review.
Am J Kidney Dis
; 77(3): 410-419, 2021 03.
Article
en En
| MEDLINE
| ID: mdl-33039432
ABSTRACT
Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins resulting in a group of diseases collectively known as ciliopathies. Many of these mutations manifest as renal ciliopathies, characterized by kidney dysfunction resulting from aberrant cilia or ciliary functions. This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome as the main focus of this review. Renal ciliopathies are characterized by the presence of kidney cysts that develop due to uncontrolled epithelial cell proliferation, growth, and polarity, downstream of dysregulated ciliary-dependent signaling. Due to cystic-associated kidney injury and systemic inflammation, cases result in kidney failure requiring dialysis and transplantation. Of the handful of pharmacologic treatments available, none are curative. It is important to determine the molecular mechanisms that underlie the involvement of the primary cilium in cyst initiation, expansion, and progression for the development of novel and efficacious treatments. This review updates research progress in defining key genes and molecules central to ciliogenesis and renal ciliopathies.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cilios
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Síndrome de Bardet-Biedl
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Ciliopatías
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Enfermedades Renales Poliquísticas
Idioma:
En
Revista:
Am J Kidney Dis
Año:
2021
Tipo del documento:
Article
País de afiliación:
Australia