我们在此报告了一个3岁男孩,由于PAX2错义突变(外显子4第418位的C至G变性)而患有慢性肾脏疾病(CKD)。
他在我们的诊所就诊,有3个月的泡沫尿病史。经检查,他的估计肾小球滤过率(GFR)和肾萎缩降低.基因调查显示,他从父亲那里继承了一个突变的PAX2基因,20岁时患有肾功能衰竭。我们搜索了文献,证实该突变位点之前没有任何其他研究小组报道过。
尽管同时累及肾脏和眼睛的肾脏缺损综合征(RCS)是PAX2突变的最常见表型,目前的文献支持这种突变可能具有丰富的临床表现,而肾发育不全是该谱中的一个独特实体。
We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4).
He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomerular filtration rate (GFR) and renal atrophy. Genetic investigations revealed that he has inherited a mutated PAX2 gene from his father, who had renal failure at the age of 20. We searched the literature and confirmed that this mutation site has not been reported by any other group before.
Although renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, current literature supports that such mutations may have profuse clinical manifestations and renal hypoplasia is one distinct entity in the spectrum.