Open AccessThe Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect
Author(s) -
Miriam Zacchia,
Valentina Di Iorio,
Francesco Trepiccione,
Marianna Caterino,
Giovambattista Capasso
Publication year - 2017
Publication title -
kidney diseases
Language(s) - English
Resource type - Journals
eISSN - 2296-9381
pISSN - 2296-9357
DOI - 10.1159/000475500
Subject(s) - ciliopathies , loop of henle , nephron , medicine , endocrinology , cilium , ciliopathy , reabsorption , kidney , tubular fluid , biology , chemistry , microbiology and biotechnology , genetics , phenotype , gene
The ciliopathies are a growing number of disorders caused by mutations in genes involved in the function of the primary cilium. Bardet-Biedl syndrome (BBS) belongs to this group of disorders. In this setting, kidney dysfunction is highly variable, and urine concentrating defect, a common feature of multiple ciliopathies, has been described as the most frequent defect. Here we review the mechanism of urine concentration and describe the possible mechanism underling this defect in ciliopathies and especially BBS, based on the current body of literature.