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

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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:
CreatorsEmailORCIDORCID Put Code
Bergmann, CarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Bothmer, JenniferUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bruechle, Nadina OrtizUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Venghaus, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Frank, ValeskaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fehrenbach, HenryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hampel, TobiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pape, LarsUNSPECIFIEDorcid.org/0000-0002-3635-6418UNSPECIFIED
Buske, AnnegretUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jonsson, JonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sarioglu, NanetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Santos, AntoniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ferreira, Jose CarlosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, Jan U.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cremer, ReinholdUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoefele, JuliaUNSPECIFIEDorcid.org/0000-0002-7917-7129UNSPECIFIED
Benz, Marcus R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Lutz T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buettner, ReinhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zerres, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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:
KeywordsLanguage
AUTOSOMAL-DOMINANT; PROTEIN COMPLEX; TCF2 GENE; FIBROCYSTIN/POLYDUCTIN; MANIFESTATIONS; MECHANISMS; ARPKDMultiple languages
Urology & NephrologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/48585

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