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

Emilie Cornec-Le Gall 1, 2 Marie-Pierre Audrézet 1 Eric Renaudineau 3 Maryvonne Hourmant 4 Christophe Charasse 5 Eric Michez Thierry Frouget 6 Cécile Vigneau 7 Jacques Dantal Pascale Siohan 8 Hélène Longuet 9 Philippe Gatault 10 Laure Ecotière Frank Bridoux 11 Lise Mandart 12 Catherine Hanrotel-Saliou 13 Corina Stanescu Pascale Depraetre 14 Sophie Gie Michiel Massad Aude Kersalé Guillaume Séret Jean-François Augusto 15 Philippe Saliou 16 Sandrine Maestri Jian-Min Chen Peter C Harris 17, 18 Claude Férec 1, 19 Yannick Le Meur 20, 2 
Abstract : 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.
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Submitted on : Friday, April 7, 2017 - 12:47:34 PM
Last modification on : Wednesday, September 7, 2022 - 11:32:04 AM

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Emilie Cornec-Le Gall, Marie-Pierre Audrézet, Eric Renaudineau, Maryvonne Hourmant, Christophe Charasse, et al.. PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.. American Journal of Kidney Diseases, Elsevier, 2017, 70 (4), pp.476-485. ⟨10.1053/j.ajkd.2017.01.046⟩. ⟨hal-01503616⟩



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