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Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

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Authors
Bergmann, Carsten
von Bothmer, Jennifer
Ortiz Brüchle, Nadina
Venghaus, Andreas
Frank, Valeska
Fehrenbach, Henry
Hampel, Tobias
Pape, Lars
Buske, Annegret
Jonsson, Jon
Sarioglu, Nanette
Santos, Antónia
Ferreira, Jose Carlos
Becker, Jan U
Cremer, Reinhold
Hoefele, Julia
Benz, Marcus R
Weber, Lutz T
Buettner, Reinhard
Zerres, Klaus
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Issue Date
2011-11

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Citation
J. Am. Soc. Nephrol. 2011, 22 (11):2047-56
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early and severe phenotype that can be clinically indistinguishable from autosomal recessive polycystic kidney disease (ARPKD). The high recurrence risk in pedigrees with early and severe PKD strongly suggests a common familial modifying background, but the mechanisms underlying the extensive phenotypic variability observed among affected family members remain unknown. Here, we describe severely affected patients with PKD who carry, in addition to their expected familial germ-line defect, additional mutations in PKD genes, including HNF-1β, which likely aggravate the phenotype. Our findings are consistent with a common pathogenesis and dosage theory for PKD and may propose a general concept for the modification of disease expression in other so-called monogenic disorders.
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http://dx.doi.org/10.1681/ASN.2010101080
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Archived with thanks to Journal of the American Society of Nephrology : JASN
ae974a485f413a2113503eed53cd6c53
10.1681/ASN.2010101080
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