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.
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
SVELTO, Maria;PROCINO, Giuseppe
2014-01-01
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.File in questo prodotto:
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