PDF(Pubmed)
Abstract：
TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes. This is a rare contiguous genomic disease with clinical manifestations of tuberous sclerosis and polycystic kidney disease. To our knowledge, this case report is the first known case of TSC2/PKD1 contiguous gene deletions in a pregnant woman. The patient had multiple renal cysts, angiomyolipoma, hypomelanotic macules, shagreen patch, subependymal giant cell astrocytoma, multiple cortical tubers, and subependymal nodules. The patient underwent genetic testing. To exclude genetic defects in the fetus, prenatal fetal genetic testing was performed after obtaining the patient\'s consent. We found an increasing trend in the size of renal cysts and renal angiomyolipomas in patients with polycystic kidney with tuberous sclerosis during pregnancy. Through enhanced clinical monitoring of patients and prenatal genetic testing of the fetus, timely and effective clinical intervention for the mother may be achieved, thus obtaining the best possible outcome for both mother and fetus.
摘要：
TSC2/PKD1连续基因缺失综合征是由TSC2和PKD1基因缺失引起的疾病。这是一种罕见的连续基因组疾病，临床表现为结节性硬化症和多囊肾病。据我们所知,本病例报告是已知的首例孕妇中TSC2/PKD1连续基因缺失的病例.病人有多个肾囊肿,血管平滑肌脂肪瘤,低黑素性黄斑，Shagreen补丁,室管膜下巨细胞星形细胞瘤，多个皮质块茎，和室管膜下结节.患者接受基因检测。为了排除胎儿的遗传缺陷，在征得患者同意后进行产前胎儿基因检测.我们发现妊娠合并结节性硬化症的多囊肾患者的肾囊肿和肾血管平滑肌脂肪瘤的大小有增加的趋势。通过加强对病人的临床监测和胎儿的产前基因检测,对母亲进行及时有效的临床干预,从而为母亲和胎儿获得最佳结果。
