Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease

Clin Genet. 2018 Jul;94(1):125-131. doi: 10.1111/cge.13249. Epub 2018 Apr 11.


Distinguishing autosomal-dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease-causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with PKD1 or PKD2 mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%, P = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL, P = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg, P = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.

Keywords: ADPKD; genotype-phenotype; polycystic kidney disease; polycystic liver disease; total kidney volume.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Cysts / etiology*
  • Cysts / pathology*
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Kidney / pathology*
  • Kidney Function Tests
  • Liver / pathology*
  • Liver Function Tests
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Phenotype
  • Polycystic Kidney, Autosomal Dominant / complications
  • Polycystic Kidney, Autosomal Dominant / diagnosis*
  • Polycystic Kidney, Autosomal Dominant / epidemiology
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Prevalence
  • TRPP Cation Channels / genetics*
  • Tomography, X-Ray Computed


  • TRPP Cation Channels
  • polycystic kidney disease 1 protein
  • polycystic kidney disease 2 protein