Clin Nephrol. 2022 Dec;98(6):309-316. doi: 10.5414/CN110895.
We report two cases of gene variation diagnosed in infancy, in whom fetal ultrasonography revealed enhanced echogenicity and multiple cysts in the renal parenchyma of both patients. They were initially diagnosed as autosomal recessive polycystic kidney disease. Gene testing showed a variation of gene, one showed chromosome 17q12 deletion including , the other was a de novo nonsense mutation in the gene. The two children showed different renal function states. Extrarenal phenotypes also vary widely according to gene variation including early-onset diabetes, autism spectrum, cognitive disorders, liver function abnormalities, and genital malformations, etc. We emphasize the importance of performing gene detection in order to make an accurate diagnosis, especially in those with fetal hyperechogenic kidneys, and so as to carry out reasonable multidisciplinary management. Early intervention for diabetes and neurodevelopmental disorders are especially important.
我们报告了两例在婴儿期诊断出的基因突变病例，这两例患者的胎儿超声检查均显示双侧肾脏实质回声增强并有多个囊肿。他们最初被诊断为常染色体隐性多囊肾病。基因检测显示，一例存在 基因的染色体 17q12 缺失，另一例为 基因的新生无义突变。这两个孩子的肾功能状态不同。根据 基因突变，肾脏外表型也差异很大，包括早发性糖尿病、自闭症谱系障碍、认知障碍、肝功能异常和生殖器畸形等。我们强调了进行基因检测的重要性，以便做出准确的诊断，特别是对于那些有胎儿肾脏回声增强的患者，并进行合理的多学科管理。早期干预糖尿病和神经发育障碍尤为重要。
