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Abstract
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other ciliary disorders, and explore the possible mechanistic underpinnings of ciliary dysfunction.
Authors
Norann A. Zaghloul, Nicholas Katsanis
Figure 3
Renal phenotypes of ciliopathies.
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(A ) Intravenous pyelogram of BBS kidney showing pyelocalyceal dilatation, calyceal clubbing, and pericalyceal cysts. (B ) ADPKD kidneys typically have numerous cysts of variable sizes, with even distribution throughout the renal cortex and medulla. (C ) ARPKD kidneys retain a reniform configuration with radiating, fusiform nonobstructive dilatations of the collecting ducts extending from the medulla to the cortex. (D ) In NPH — as in JBTS, Senior-Loken Syndrome, and Jeune syndrome — the kidney exhibits cysts arising from the corticomedullary junction. (E ) MKS kidneys manifest cystic dysplastic changes. Images reproduced with permission from Radiology (125 ) (A ), Journal of the American Society of Nephrology (113 ) (D ), and Advances in Anatomic Pathology (126 ) (B , C , and E ). Scale bar: 1 cm.
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ISSN: 0021-9738 (print), 1558-8238 (online)