Torban Elena, Goodyer Paul
Departments of Medicine, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Annu Rev Med. 2009;60:339-53. doi: 10.1146/annurev.med.60.052307.120752.
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.
肾发育异常与外耳轻微畸形之间的关联较弱。然而，有一长串显著的综合征将肾脏与内耳联系起来。为了梳理这些看似毫无关联的综合征，我们将具有代表性的例子归为三组：(a) 共享发育调控通路的综合征；(b) 涉及初级纤毛功能障碍的综合征，初级纤毛通常会向其所处的上皮细胞提供有关周围液体的关键信息；(c) 由负责离子和药物进出细胞外液运输或提供结构支撑的特殊蛋白质功能障碍引起的综合征。
