Universität zu Köln

Hackl, Agnes, Erger, Florian ORCID: 0000-0002-2768-1702, Skerka, Christine, Wenzel, Andrea, Tschernoster, Nikolai, Ehren, Rasmus, Burgmaier, Kathrin, Riehmer, Vera, Licht, Christoph, Kirschfink, Michael, Weber, Lutz T., Altmueller, Janine, Zipfel, Peter F. and Habbig, Sandra (2020). Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies. Clin. Nephrol., 94 (4). S. 197 - 207. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

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Abstract

C3 glomendonephritis (C3GN) is a rare but severe form of kidney disease caused by fluid-phase dysregulation of the alternative complement pathway. Causative mutations in complement regulating genes as well as auto-immune forms of C3GN have been described. However, therapy and prognosis in individual patients remain a matter of debate and long-term data are scarce. This also applies for the management of transplant patients as disease recurrence post-transplant is frequent. Here, we depict the clinical courses of two sisters with the unique combination of an identical, homozygous mutation in the complement factor H (CFH) gene as well as autoantibodies with a clinical follow-up of more than 20 years. Interestingly, the sisters presented with discordant clinical courses of C3GN with normal kidney function in one (patient A) and end-stage kidney disease in the other sister (patient B). In patient B, eculizumab was administered immediately prior to and in the course after kidney transplantation, with the result of a stable graft function without any signs of disease recurrence. Comprehensive genetic work-up revealed no further disease-causing mutation in both sisters. Intriguingly, the auto-antibody profile substantially differed in both sisters: autoantibodies in patient A reduced the C3b deposition, while the antibodies identified in patient B increased complement activation and deposition of split products. This study underlines the concept of a personalized-medicine approach in complement-associated diseases after thorough evaluation of the individual risk profile in each patient.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hackl, Agnes UNSPECIFIED UNSPECIFIED UNSPECIFIED Erger, Florian UNSPECIFIED orcid.org/0000-0002-2768-1702 UNSPECIFIED Skerka, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Wenzel, Andrea UNSPECIFIED UNSPECIFIED UNSPECIFIED Tschernoster, Nikolai UNSPECIFIED UNSPECIFIED UNSPECIFIED Ehren, Rasmus UNSPECIFIED UNSPECIFIED UNSPECIFIED Burgmaier, Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Riehmer, Vera UNSPECIFIED UNSPECIFIED UNSPECIFIED Licht, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Kirschfink, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Zipfel, Peter F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Habbig, Sandra UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-317769
DOI:	10.5414/CN110135
Journal or Publication Title:	Clin. Nephrol.
Volume:	94
Number:	4
Page Range:	S. 197 - 207
Date:	2020
Publisher:	DUSTRI-VERLAG DR KARL FEISTLE
Place of Publication:	DEISENHOFEN-MUENCHEN
ISSN:	0301-0430
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DENSE DEPOSIT DISEASE; FACTOR-H DEFICIENCY; GLOMERULONEPHRITIS; GLOMERULOPATHY; ECULIZUMAB Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/31776