Le ciliopatie

Translated title of the contribution: Ciliopathies

Valentina Corazzi, Francesco Emma, Giovanni Montini

Research output: Contribution to journalArticle

Abstract

Ciliopathies comprise a group of hereditary disorders caused by mutations of genes that codify for proteins that are involved in the cilium-centrosome cellular complex. Cilia are essential components of most vertebrate cells and are necessary for correct cellular proliferation and differentiation, so ciliary dysfunction can give rise to a wide variety of clinical manifestations; the most commonly affected organs in ciliopathies are the retina, kidney, liver and central nervous system. To date, only 40 genes are known to be mutated in ciliopathies, with more than 1,000 polypeptides identified in the cilium-centrosome complex. Ciliopathies include recessive and dominant polycystic kidney disease (ARPKD, ADPKD), isolated nephronophthisis (NPH), Joubert syndrome and Bardet-Biedl syndrome. At present, only conservative therapy is available for these cystic nephropathies, which delays the progression of chronic kidney failure and its complications (primarily arterial hypertension). Further studies are necessary to shed light on the pathogenetic mechanism which leads from the mutations to the complex process of cystogenesis and to allow cyst formation to be directly targeted by means of specific drug therapy.

Translated title of the contributionCiliopathies
Original languageItalian
Pages (from-to)107-113
Number of pages7
JournalMedico e Bambino
Volume32
Issue number2
Publication statusPublished - Feb 2013

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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  • Cite this

    Corazzi, V., Emma, F., & Montini, G. (2013). Le ciliopatie. Medico e Bambino, 32(2), 107-113.