Giovanella Silvia, Pasini Andrea, Ligabue Giulia, Testa Francesca, Mori Giacomo, Tagliafico Enrico, Magistroni Riccardo
PhD Program in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Nephrology and Dialysis Service, Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Nephron. 2023;147(2):120-126. doi: 10.1159/000525022. Epub 2022 Jul 5.
Renal coloboma syndrome (RCS) is a disease characterized by kidney and ocular anomalies (kidney hypodysplasia and coloboma). RCS is caused, in half of the cases, by mutations in the paired box 2 (PAX2) gene, a critical organogenesis transcriptional factor. We report the case of a newborn with kidney hypodysplasia in a negative parental context where mother and father were phenotypically unaffected at the initial evaluation. The maternal family presented an important history of kidney disease with undefined diagnosis. Molecular characterization identified a PAX2 variant, classified as likely pathogenic. This variant segregates with the disease, and it was also found in the newborn, explaining his severe symptoms. It is noteworthy that the mother shows the same PAX2 variant, with an apparently negative kidney phenotype, displaying the possibility of an extreme variable expressivity of the disease. This feature suggests extreme caution in segregation analysis and family counseling of PAX2 pedigrees.
肾裂综合征（RCS）是一种以肾脏和眼部异常（肾发育不全和裂孔）为特征的疾病。在一半的病例中，RCS是由配对盒2（PAX2）基因突变引起的，PAX2是一种关键的器官发生转录因子。我们报告了一例新生儿肾发育不全的病例，其父母在初始评估时表型正常。母亲家族有重要的肾脏疾病病史，但诊断不明确。分子特征鉴定出一个PAX2变异体，分类为可能致病。该变异体与疾病共分离，在新生儿中也被发现，解释了他的严重症状。值得注意的是，母亲表现出相同的PAX2变异体，但肾脏表型明显正常，显示出该疾病具有极端可变表达性的可能性。这一特征提示在PAX2家系的分离分析和遗传咨询中要格外谨慎。
