Universität zu Köln

Beck, B. B., Wollnik, B. and Koemhoff, M. (2013). Ion channelopathies of the kidney and adrenal gland. Med. Genet., 25 (4). S. 480 - 486. NEW YORK: SPRINGER. ISSN 1863-5490

Full text not available from this repository.

Abstract

Genetic kidney diseases represent a significant proportion of kidney diseases manifesting in childhood and adolescence, but are also gaining importance in slowly progressive or late-onset adult diseases. A significant portion of kidney diseases particularly in childhood are associated with end stage renal disease and/or other relevant morbidity. An early (molecular) diagnosis can be a prerequisite for a better prognostic assessment and provides opportunities in terms of optimized symptomatic therapy. Mechanistically speaking, mutations in ion channel-associated nephropathy represent-in addition to structural defects of the glomerular filter (e. g., COL4A3, LAMB2, nephrin) and disorders of signaling pathways that are relevant for the development of the urogenital tract (e. g., HNF1B, WT1)-a significant proportion of the group with respect to number and prototypes. Determination of the molecular genetics of (hypokalemic) salt-losing tubulopathies has contributed significantly to our understanding of the central role of the kidney in salt balance. The spectrum of renal ion channelopathies is shown using the example of classical salt-losing tubulopathies (Bartter syndrome and Gitelman syndrome), the transient receptor potential (TRP) channel group and the role of channel changes in aldosteronism and congenital hypertension.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Beck, B. B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Koemhoff, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-470408
DOI:	10.1007/s11825-013-0423-7
Journal or Publication Title:	Med. Genet.
Volume:	25
Number:	4
Page Range:	S. 480 - 486
Date:	2013
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ALDOSTERONE-PRODUCING ADENOMAS; CHANNEL MUTATIONS; HYPERTENSION; SYNTHASE Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47040