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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-015 - A novel MVK mutation in a child with AA amyloid

Authors: A Kolsky, D Rowczenio, H Lachmann, Z Vernerova, F Votava, P Dolezalova

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

AA amyloidosis may develop as a consequence of chronic inflammatory conditions including inherited periodic fever syndromes. Mevalonate-kinase (MVK) deficiency (MKD) appears to be the least frequent underlying condition after FMF, TRAPS and CAPS. Moreover, amyloidosis rarely manifests during childhood. We report a case of a small child in whom renal biopsy performed because of the cortico-resistant nephrotic syndrome revealed AA amyloidosis. …
Literature
1.
Lachmann HJ: AA Amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome. A report of two cases. Arthritis Rheum. 2006, 54 (6): 2010-14. 10.1002/art.21901.CrossRefPubMed
2.
Lane T: AA amyloidosis complicating the inherited periodic fever syndromes. Arthritis Rheum. 2012, 10.1002/art.37827.
3.
Yel S: Amyloidosis an a child with hyperimmunoglobulinemia D syndrome. IJKD. 2013, 7: 70-2.PubMed
Metadata
Title
P02-015 - A novel MVK mutation in a child with AA amyloid
Authors
A Kolsky
D Rowczenio
H Lachmann
Z Vernerova
F Votava
P Dolezalova
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A122

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