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Comment
. 2014 Feb;85(2):236-7.
doi: 10.1038/ki.2013.371.

The importance of quantifying genetic heterogeneity in ADPKD

Arlene B Chapman  1
Affiliations
Comment

The importance of quantifying genetic heterogeneity in ADPKD

Arlene B Chapman. Kidney Int. 2014 Feb.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. New data from Paul et al. suggest that mutations in the PKD1 and PKD2 genes may account for all cases of ADPKD. Further improvements in mutation detection methodologies are needed to determine the true relative frequency of PKD1 versus PKD2 as well as to establish the value of mutation type and location to predict disease severity in this disorder.

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Conflict of interest statement

Dr. Chapman receives consulting fees from Otsuka, Pfizer and Sanofi. There are no financial conflicts to disclose.

Comment on

References

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