The kidney and ear: emerging parallel functions.
The association between renal dysplasia and minor malformations of the external ear is weak. However, there is a remarkable list of syndromes that link the kidney to the inner ear. To organize these seemingly disparate syndromes, we cluster representative examples into three groups: (a) syndromes that share pathways regulating development; (b) syndromes involving dysfunction of the primary cilium, which normally provides critical information to epithelial cells about the fluid in which they are bathed; (c) syndromes arising from dysfunction of specialized proteins that transport ions and drugs in and out of the extracellular fluid or provide structural support.
Torban
Elena
E
Departments of Medicine, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Goodyer
Paul
P
D064420:Drug-Related Side Effects and Adverse Reactions; D004423:Ear / Q000002:abnormalities / Q000196:embryology; D004427:Ear Diseases / Q000150:complications* / Q000209:etiology / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000196:embryology; D007674:Kidney Diseases / Q000150:complications* / Q000209:etiology / Q000235:genetics; D009154:Mutation; D013577:Syndrome