Adam Jennifer, Browning Andrew C, Vaideanu Daniela, Heidet Laurence, Goodship Judith A, Sayer John A
Renal Unit , Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle Upon Tyne , UK.
Opthalmology Department, Royal Victoria Infirmary , Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle Upon Tyne , UK.
Clin Kidney J. 2013 Aug;6(4):410-3. doi: 10.1093/ckj/sft058. Epub 2013 Jun 23.
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.
肾裂综合征（RCS）是一种罕见的遗传性疾病，表现出肾脏和眼部异常的可变临床表型。在50%的病例中，可在转录因子PAX2中发现突变。我们展示了一个有PAX2突变的三代家族，其表现出可变的眼部和肾脏表型。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。眼部表型包括典型的牵牛花异常、黄斑视网膜色素上皮改变和视网膜静脉迂曲。我们鉴定出一个PAX2突变c.228_251dup [p.Ser77_Gly84dup]，它以常染色体显性方式与表型分离。分子遗传学诊断有助于识别和管理有风险的家庭成员。鉴于表型的变异性，临床医生需要考虑慢性肾病（CKD）或眼病家族史患者中RCS的可能性。
