配对盒2(PAX2)相关疾病是与肾脏和眼睛异常相关的常染色体显性遗传疾病,可导致终末期肾病(ESRD)。尽管据报道PAX2突变的患病率较低,在过去的研究中,PAX2相关疾病的患病率可能被低估了.随着基因测序技术的改进,检测到的基因异常比以往任何时候都多。这里,我们报告了在1年内发现的2个PAX2突变家庭中的3例患者.两名患者是患有慢性肾脏疾病的成年人,并在没有正确诊断的情况下进行了数十年的随访。包括一名ESRD患者,他甚至接受了肾脏移植。第三例患者是一名新生儿,PAX2相关疾病表现为羊水过少,结肠瘤,和肾功能衰竭在出生后1年内进展为ESRD。PAX2基因突变的表型被证明是高度可变的,即使在同一个家庭里。早期发现促进遗传咨询和指导临床管理。遗传研究的合适时间点是一个重要问题。临床医生在面对先天性肾脏和泌尿道异常患者时,必须对PAX2突变更加警惕,病因不明的慢性肾脏病,多个系统的参与,和/或肾病家族史。
Paired box 2 (
PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of
PAX2 mutations, the prevalence of
PAX2 related disorders may have been underestimated in past studies. With improved genetic sequencing techniques, more genetic abnormalities are being detected than ever before. Here, we report three patients from two families with
PAX2 mutations identified within 1 year. Two patients were adults with chronic kidney disease and were followed for decades without correct diagnoses, including one with ESRD who had even undergone kidney transplant. The third patient was a neonate in whom
PAX2-related disorder manifested as oligohydramnios, coloboma, and renal failure that progressed to ESRD within 1 year after birth. The phenotypes of
PAX2 gene mutation were shown to be highly variable, even within the same family. Early detection promoted genetic counseling and guided clinical management. The appropriate time point for genetic study is an important issue. Clinicians must be more alert for PAX2 mutation when facing patients with congenital kidney and urinary tract anomalies, chronic kidney disease of unknown etiology, involvement of multiple systems, and/or a family history of renal disease.