Problemi speciali
Le ciliopatie
Ciliopathies
Valentina Corazzi1, Francesco Emma2, Giovanni Montini1
1SS Nefrologia e Dialisi Pediatrica, Azienda Ospedaliero-Universitaria Sant’Orsola-Malpighi, Bologna
2UOC Nefrologia e Dialisi, Ospedale Bambin Gesù, Roma
Febbraio 2013 - pagg. 107 -113
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.
Parole chiave
Classificazione MeSH
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Corrispondenza: vale.corazzi@gmail.com