托伐普坦改善了一名老年常染色体显性多囊肾病患者的肾功能：一例病例报告。
Tolvaptan ameliorated kidney function for one elderly autosomal dominant polycystic kidney disease patient: A case report.
作者信息
Zhou Li, Tian Yan, Ma Liang, Li Wen-Ge
机构信息
Department of Nephrology, China-Japan Friendship Hospital, Beijing 100029, China.
Department of Ultrasound Medicine, China-Japan Friendship Hospital, Beijing 100029, China.
出版信息
World J Clin Cases. 2022 Nov 6;10(31):11500-11507. doi: 10.12998/wjcc.v10.i31.11500.
BACKGROUND
Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts within the kidneys. Disease progress of some patients often occurs at the early stage. Thus, managing and controlling disease progress is important to slow the kidney function decline especially for the patient with other disorders.
CASE SUMMARY
One 80-year-old male autosomal dominant polycystic kidney disease (ADPKD) patient with chronic kidney disease and other clinical disorders was treated with tolvaptan and edoxaban. Estimated glomerular filtration rate, creatinine and uric acid were monitored during the treatment. In addition, the whole exome sequencing was performed to screen ADPKD genetic variants. The kidney function decline was prevented after using tolvaptan and edoxaban treatment and in the meantime, a venous thromboembolism was removed and leg and pedal edema were alleviated. One mutation c.10102G>A /p.D3368N in the PKD1 gene was identified.
CONCLUSION
Tolvaptan combined with edoxaban administration could delay kidney function decline and eliminate the edema caused by the thromboembolism.
背景
多囊肾病（PKD）是一种遗传性疾病，其特征是肾脏内出现大量囊肿。一些患者的疾病进展往往发生在早期。因此，管理和控制疾病进展对于减缓肾功能下降很重要，特别是对于患有其他疾病的患者。
病例摘要
一名80岁男性常染色体显性多囊肾病（ADPKD）患者，患有慢性肾病和其他临床疾病，接受了托伐普坦和依度沙班治疗。治疗期间监测了估计肾小球滤过率、肌酐和尿酸。此外，进行了全外显子组测序以筛查ADPKD基因变异。使用托伐普坦和依度沙班治疗后，肾功能下降得到预防，同时，静脉血栓栓塞消失，腿部和足部水肿减轻。在PKD1基因中鉴定出一个c.10102G>A /p.D3368N突变。
结论
托伐普坦联合依度沙班给药可延缓肾功能下降，并消除血栓栓塞引起的水肿。
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