Universität zu Köln

Koenig, J., Habbig, S. and Liebau, M. C. (2019). Management of ciliopathies in childhood and adolescence. Nephrologe, 14 (3). S. 192 - 199. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1862-0418

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Abstract

Ciliopathies encompass agenetically and clinically heterogeneous group of disorders that share acommon pathophysiology, i.e. the dysfunction of ahighly specialized cellular organelle, the so-called cilium. Clinically, ciliopathies in many cases present with cystic kidney disease, which is often already manifested in childhood and adolescence. The correct diagnosis and management of this group of diseases represent a great challenge for treating physicians. This is due to the often oligosymptomatic presentation, an incompletely expressed sonographic morphological phenotype and clear clinical and genetic overlaps of individual disease entities in this patient group. This article describes the important differential diagnostics of cystic ciliopathies with renal involvement during childhood and adolescence and points to some of the special challenges in the treatment and diagnostics in this age group. In addition, current collaborative research approaches on pediatric ciliopathies are presented.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Koenig, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Habbig, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Liebau, M. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-149545
DOI:	10.1007/s11560-019-0312-4
Journal or Publication Title:	Nephrologe
Volume:	14
Number:	3
Page Range:	S. 192 - 199
Date:	2019
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1862-0418
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language KIDNEY-DISEASE; CILIA; NEPHRONOPHTHISIS; MUTATIONS; DIAGNOSIS; HOMOLOG Multiple languages Urology & Nephrology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/14954