Frontiers in Genetics (Sep 2022)

A single-center analysis of genotype–phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing

  • Ziyan Yan,
  • Yuchen Wang,
  • Wenfeng Deng,
  • Yi Zhou,
  • Yangcheng Hu,
  • Ka Qi,
  • Ding Liu,
  • Renfei Xia,
  • Rumin Liu,
  • Wenli Zeng,
  • Wei Zhang,
  • Jian Xu,
  • Fu Xiong,
  • Yun Miao

DOI
https://doi.org/10.3389/fgene.2022.934463
Journal volume & issue
Vol. 13

Abstract

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Background: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by PKD1 and PKD2 mutations. However, only a few studies have investigated the genotype and phenotype characteristics of Asian patients with ADPKD. This study aimed to investigate the relationship between the natural course of ADPKD genotype and phenotype.Methods: Genetic studies of PKD1/2 genes of Chinese patients with ADPKD in a single center were performed using targeted exome sequencing and next-generation sequencing on peripheral blood DNA.Results: Among the 140 patients analyzed, 80.00% (n = 112) harbored PKD1 mutations, 11.43% (n = 16) harbored PKD2 mutations, and 8.57% (n = 12) harbored neither PKD1 nor PKD2 mutations. The average age at dialysis was 52.60 ± 11.36, 60.67 ± 5.64, and 52.11 ± 14.63 years, respectively. The renal survival rate of ADPKD patients with PKD1 mutations (77/112) was significantly lower than that of those with PKD2 mutations (9/16), leading to an earlier onset of end-stage renal disease (ESRD). Renal prognosis was poor for those with nonsense mutations, and they required earlier renal replacement therapy.Conclusions: The genotype and phenotype characteristics of ADPKD patients potentially vary across ethnic groups. Our findings supplement the genetic profiles of Chinese ADPKD patients, could serve as a guide for therapy monitoring and prognosis assessment of ADPKD, and may improve the clinical diagnosis.

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