关键词: Autosomal dominant polycystic kidney disease Case report Chronic kidney disease Deep vein thrombosis Tolvaptan

来  源:   DOI:10.12998/wjcc.v10.i31.11500   PDF(Pubmed)

Abstract:
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.
METHODS: 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.
CONCLUSIONS: Tolvaptan combined with edoxaban administration could delay kidney function decline and eliminate the edema caused by the thromboembolism.
摘要:
背景:多囊肾病(PKD)是一种遗传性疾病,其特征是肾脏内许多囊肿的生长。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特别是对于患有其他疾病的患者。
方法:一名80岁男性常染色体显性遗传多囊肾病(ADPKD)患者患有慢性肾病和其他临床疾病,接受托伐普坦和依度沙班治疗。估计的肾小球滤过率,治疗期间监测肌酐和尿酸.此外,进行全外显子组测序以筛选ADPKD遗传变异.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,静脉血栓栓塞被清除,腿部和脚踏板水肿得到缓解.一个突变c.10102G>A/p。D3368N在PKD1基因中被鉴定。
结论:托伐普坦联合依度沙班可延缓肾功能下降,消除血栓栓塞引起的水肿。
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