A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
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DOI：
10.1093/ckj/sft058
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发表时间：
2013-08
影响因子：
4.6
通讯作者：
Sayer JA
中科院分区：
文献类型：
--
作者：
Adam J;Browning AC;Vaideanu D;Heidet L;Goodship JA;Sayer JA
肾缺损综合征（RCS）是一种罕见的遗传性疾病，表现为肾脏和眼部异常的可变临床表型。在50%的病例中，可以在转录因子PAX2中发现突变。我们提出了一个家族的三代PAX2突变谁表现出可变的眼睛和肾脏表型。肾脏表型从无蛋白尿的正常肾脏到17岁时的终末期肾病（ESRD）不等。眼表型包括典型的牵牛花异常、黄斑部视网膜色素上皮改变和视网膜静脉迂曲。我们确定了PAX2突变c.228_251dup [p.Ser77_Gly84dup]，其以常染色体显性方式与表型分离。分子遗传学诊断允许识别和管理有风险的家庭成员。考虑到表型变异性，临床医生需要考虑有慢性肾病（CKD）或眼病家族史的患者中RCS的可能性。
Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and renal phenotypes. Renal phenotypes ranged from normal kidneys with the absence of proteinuria to end-stage renal disease (ESRD) at 17 years of age. Eye phenotypes included the typical morning glory anomaly, macular retinal pigment epithelial changes and retinal venous tortuosity. We identified a PAX2 mutation c.228_251dup [p.Ser77_Gly84dup] which segregated with the phenotype in an autosomal dominant fashion. A molecular genetic diagnosis allowed identification and management of at-risk family members. Given the phenotypic variability, clinicians need to consider the possibility of RCS in patients with a family history of chronic kidney disease (CKD) or eye disease.