PDF(Pubmed)
Abstract：
We present the case of a 41-year-old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD). Genetic testing revealed PKD1 gene intron 11 heterozygous nucleotide variant c.2854-23G>T, but no gene mutation implicated in URA. Just eight cases of ADPKD with one kidney have been recorded globally. PC1 and PC2 disruption, causing primary cilia malformation or absence resulting in relevant in the first embryonic development alteration. Cillia\'s crucial significance in many diseases will require more research.
摘要：
我们介绍了一名41岁的男性患者，该患者被诊断为孤立的左肾，囊肿很少。他有单侧肾脏发育不全（URA）的家族史，但没有常染色体显性多囊肾病（ADPKD）。基因检测显示PKD1基因内含子11杂合核苷酸变异c.2854-23G>T,但URA中没有涉及基因突变。全球仅记录了8例带有一个肾脏的ADPKD。PC1和PC2中断，引起初级纤毛畸形或缺失，导致与第一次胚胎发育有关的改变。Cillia在许多疾病中的重要意义将需要更多的研究。
