Nardi E, Palermo A, Cusimano P, Mulè G, Cerasola G
Cattedra di Medicina Interna, Dipartimento di Medicina Interna, Malattie Cardiovascolari e NefroUrologiche, Excellence Center of the European Society of Hypertension, Università degli Studi di Palermo, Italy.
Clin Nephrol. 2011 Oct;76(4):330-3. doi: 10.5414/cn106676.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease clinically characterized by the coexistence of some or all of the following major disorders: deafness, cervical branchial fistulae, preauricular pits, and renal abnormalities. Most families with BOR syndrome have mutations on the EYA-1 gene on chromosome 8q. We present the case of a 23-year-old Italian woman without a familial history of BOR syndrome. The patient, who had hearing loss and a history of surgeries for correction of bilateral cervical branchial fistulae and bilateral preauricular pits, presented with renal impairment, hypertension and overt proteinuria. DNA sequencing showed a novel heterozygous mutation 1420-1421delCC in exon 14 of EYA-1 gene.
鳃-耳-肾（BOR）综合征是一种常染色体显性疾病，其临床特征为以下部分或全部主要病症共存：耳聋、颈部鳃瘘、耳前凹和肾脏异常。大多数患有BOR综合征的家族在8号染色体q臂上的EYA-1基因存在突变。我们报告了一名23岁无BOR综合征家族史的意大利女性病例。该患者有听力损失，并有双侧颈部鳃瘘和双侧耳前凹矫正手术史，出现了肾功能损害、高血压和明显蛋白尿。DNA测序显示EYA-1基因第14外显子有一个新的杂合突变1420 - 1421delCC。
