Universität zu Köln

Hoefele, Julia ORCID: 0000-0002-7917-7129, Beck, Bodo B., Weber, Lutz T. and Brinkkoetter, Paul ORCID: 0000-0002-4287-2080 (2018). Steroid-resistent nephrotic syndrome. Med. Genet., 30 (4). S. 410 - 422. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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Abstract

Steroid-resistant nephrotic syndrome (SRNS), together with the histomorphological correlate focal segmental glomerulosclerosis (FSGS), is a leading cause of end-stage renal disease (ESRD) in older children, adolescents, and adults. The disease spectrum is characterized by great genetic heterogeneity, but nongenetic causes are also observed in FSGS. The genetic basis of SRNS/FSGS in adolescents and adults is far from being completely understood. Reliable discrimination of the genetic causes of SRNS/FSGS is imperative, as there are already numerous clinical implications. The identification of new disease-causing alleles and genes will enhance our understanding of the underlying pathomechanisms. Using extensive genetic testing there is the possibility of finding the unresolved genetic basis for the recurrence of FSGS in patients without a genetic variant.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hoefele, Julia UNSPECIFIED orcid.org/0000-0002-7917-7129 UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Brinkkoetter, Paul UNSPECIFIED orcid.org/0000-0002-4287-2080 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-162835
DOI:	10.1007/s11825-018-0215-1
Journal or Publication Title:	Med. Genet.
Volume:	30
Number:	4
Page Range:	S. 410 - 422
Date:	2018
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FOCAL SEGMENTAL GLOMERULOSCLEROSIS; PRIMARY GLOMERULAR-DISEASES; MYCOPHENOLATE-MOFETIL; CYCLOSPORINE-A; RANDOMIZED-TRIAL; ADCK4 MUTATIONS; ADULT PATIENTS; GENE; CHILDREN; VARIANTS Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/16283