PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis

Emilie Cornec-Le Gall, Marie Pierre Audrézet, Eric Renaudineau, Maryvonne Hourmant, Christophe Charasse, Eric Michez, Thierry Frouget, Cécile Vigneau, Jacques Dantal, Pascale Siohan, Hélène Longuet, Philippe Gatault, Laure Ecotière, Frank Bridoux, Lise Mandart, Catherine Hanrotel-Saliou, Corina Stanescu, Pascale Depraetre, Sophie Gie, Michiel MassadAude Kersalé, Guillaume Séret, Jean François Augusto, Philippe Saliou, Sandrine Maestri, Jian Min Chen, Peter C. Harris, Claude Férec, Yannick Le Meur

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Background PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based studies depicting the exact burden of the disease are lacking. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort. Study Design Case series, January 2010 to March 2016. Settings & Participants Genkyst study participants are individuals older than 18 years from 22 nephrology centers from western France with a diagnosis of ADPKD based on Pei criteria or at least 10 bilateral kidney cysts in the absence of a familial history. Publicly available whole-exome sequencing data from the ExAC database were used to provide an estimate of the genetic prevalence of the disease. Outcomes Molecular analysis of PKD1 and PKD2 genes. Renal survival, age- and sex-adjusted estimated glomerular filtration rate. Results The Genkyst cohort included 293 patients with PKD2 mutations (203 pedigrees). PKD2 patients with a nephrology follow-up corresponded to 0.63 (95% CI, 0.54-0.72)/10,000 in Brittany, while PKD2 genetic prevalence was calculated at 1.64 (95% CI, 1.10-3.51)/10,000 inhabitants in the European population. Median age at diagnosis was 42 years. Flank pain was reported in 38.9%; macroscopic hematuria, in 31.1%; and cyst infections, in 15.3% of patients. At age 60 years, the cumulative probability of end-stage renal disease (ESRD) was 9.8% (95% CI, 5.2%-14.4%), whereas the probability of hypertension was 75.2% (95% CI, 68.5%-81.9%). Although there was no sex influence on renal survival, men had lower kidney function than women. Nontruncating mutations (n = 36) were associated with higher age-adjusted estimated glomerular filtration rates. Among the 18 patients with more severe outcomes (ESRD before age 60), 44% had associated conditions or nephropathies likely to account for the early progression to ESRD. Limitations Younger patients and patients presenting with milder forms of PKD2-related disease may not be diagnosed or referred to nephrology centers. Conclusions Patients with PKD2-related ADPKD typically present with mild disease. In case of accelerated degradation of kidney function, a concomitant nephropathy should be ruled out.

Original languageEnglish (US)
Pages (from-to)476-485
Number of pages10
JournalAmerican Journal of Kidney Diseases
Issue number4
StatePublished - Oct 2017


  • Autosomal dominant polycystic kidney disease (ADPKD)
  • PKD2
  • case series
  • disease progression
  • disease severity
  • end-stage renal disease (ESRD)
  • genetic prevalence
  • genetics
  • kidney function
  • mutation detection
  • mutation spectrum
  • prognosis
  • renal survival
  • sequencing

ASJC Scopus subject areas

  • Nephrology


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