Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chin

• 作 者: Li-ru QIU Rong-rong XU Jin-hui
• 机 构: DepartmentofPediatrics
• 出 处: 当代医学科学(英文)
• 发表日期: 2020年5期
• 关键词: PKHD1 mutations autosomal recessive polycystic kidney disease clinical phenotype
• 基金项目: This project was supported by the National Natural Science Foundation of China(No.81873596).

Summary:PKHD1 mutations are generally considered to cause autosomal recessive polycystic kidney disease(ARPKD).ARPKD is a rare disorder and one o f the most severe conditions leading to end-stage renal disease in childhood.With the biallelic deletion muta