Universität zu Köln

Bergmann, Carsten, von Bothmer, Jennifer, Bruechle, Nadina Ortiz, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars ORCID: 0000-0002-3635-6418, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antonia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia ORCID: 0000-0002-7917-7129, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard and Zerres, Klaus (2011). Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease. J. Am. Soc. Nephrol., 22 (11). S. 2047 - 2057. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1046-6673

Full text not available from this repository.

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-1 beta, 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Bergmann, Carsten UNSPECIFIED UNSPECIFIED UNSPECIFIED von Bothmer, Jennifer UNSPECIFIED UNSPECIFIED UNSPECIFIED Bruechle, Nadina Ortiz UNSPECIFIED UNSPECIFIED UNSPECIFIED Venghaus, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Frank, Valeska UNSPECIFIED UNSPECIFIED UNSPECIFIED Fehrenbach, Henry UNSPECIFIED UNSPECIFIED UNSPECIFIED Hampel, Tobias UNSPECIFIED UNSPECIFIED UNSPECIFIED Pape, Lars UNSPECIFIED orcid.org/0000-0002-3635-6418 UNSPECIFIED Buske, Annegret UNSPECIFIED UNSPECIFIED UNSPECIFIED Jonsson, Jon UNSPECIFIED UNSPECIFIED UNSPECIFIED Sarioglu, Nanette UNSPECIFIED UNSPECIFIED UNSPECIFIED Santos, Antonia UNSPECIFIED UNSPECIFIED UNSPECIFIED Ferreira, Jose Carlos UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Jan U. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cremer, Reinhold UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoefele, Julia UNSPECIFIED orcid.org/0000-0002-7917-7129 UNSPECIFIED Benz, Marcus R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Buettner, Reinhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Zerres, Klaus UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-485857
DOI:	10.1681/ASN.2010101080
Journal or Publication Title:	J. Am. Soc. Nephrol.
Volume:	22
Number:	11
Page Range:	S. 2047 - 2057
Date:	2011
Publisher:	AMER SOC NEPHROLOGY
Place of Publication:	WASHINGTON
ISSN:	1046-6673
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language AUTOSOMAL-DOMINANT; PROTEIN COMPLEX; TCF2 GENE; FIBROCYSTIN/POLYDUCTIN; MANIFESTATIONS; MECHANISMS; ARPKD Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48585