Knockdown of the BBS10 Gene Product Affects Apical Targeting of AQP2 in Renal Cells: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome

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Abstract

Objective: Bardet-Biedl syndrome (BBS) is a rare genetic disorder whose clinical features include renal abnormalities, which ranges from renal malformations to renal failure. Polyuria and iso-hyposthenuria are common renal dysfunctions in BBS patients even in the presence of normal GFR. The mechanism underlying this defect is unknown and no genotype-phenotype correlation has yet been reported. Here we report four BBS patients showing different renal phenotypes: one had polyuria with hyposthenuria associated with mutation of BBS10, while three patients with normal urine concentrating ability had mutations in BBS1.

Autore Pugliese

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  • PROCINO G.;SVELTO M.

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Anno di pubblicazione

2014

ISSN

2157-7412

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