Universität zu Köln

Kurschat, Christine E., Mueller, Roman-Ulrich, Franke, Mareike, Maintz, David, Schermer, Bernhard ORCID: 0000-0002-5194-9000 and Benzing, Thomas (2014). An approach to cystic kidney diseases: the clinician's view. Nat. Rev. Nephrol., 10 (12). S. 687 - 700. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1759-507X

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Abstract

Advances in molecular genetics have led to the identification of more than 70 different genes involved in the development of cystic kidney diseases. Most of these diseases are rare, and interpreting the resultant plethora of disease-causing mutations requires a methodical and meticulous approach to differential diagnosis. In this Review we discuss a clinical approach to the diagnosis of cystic kidney diseases in adults, for use by nephrologists. This approach is based upon a thorough clinical evaluation, which considers both kidney phenotype and extrarenal manifestations of the underlying disorder, in combination with genetic testing in selected patients. In our view, cystic kidney disease can (in the majority of patients) be reliably classified on the basis of clinical findings. We therefore propose that defining clinical situations to precipitate the initiation of genetic testing is mandatory and cost-effective. New techniques such as next-generation sequencing will facilitate the diagnosis of cystic kidney diseases in the future, increasing diagnostic safety in a subset of patients. In renal tumour syndromes, genetic testing is warranted.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kurschat, Christine E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mueller, Roman-Ulrich UNSPECIFIED UNSPECIFIED UNSPECIFIED Franke, Mareike UNSPECIFIED UNSPECIFIED UNSPECIFIED Maintz, David UNSPECIFIED UNSPECIFIED UNSPECIFIED Schermer, Bernhard UNSPECIFIED orcid.org/0000-0002-5194-9000 UNSPECIFIED Benzing, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-422019
DOI:	10.1038/nrneph.2014.173
Journal or Publication Title:	Nat. Rev. Nephrol.
Volume:	10
Number:	12
Page Range:	S. 687 - 700
Date:	2014
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	NEW YORK
ISSN:	1759-507X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TUBEROUS SCLEROSIS COMPLEX; GENOTYPE-PHENOTYPE CORRELATIONS; CONGENITAL HEPATIC-FIBROSIS; HIPPEL-LINDAU DISEASE; BARDET-BIEDL SYNDROME; LEFT-RIGHT ASYMMETRY; AUTOSOMAL-DOMINANT; JOUBERT SYNDROME; CELL-PROLIFERATION; CEREBELLAR-ATAXIA Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/42201