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BMC Nephrology
Published in: BMC Nephrology 1/2018

Open Access 01-12-2018 | Case report

A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis

Authors: Jianling Tao, Jonathan Lieberman, Richard A. Lafayette, Neeraja Kambham

Published in: BMC Nephrology | Issue 1/2018

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Abstract

Background

Renal thrombotic microangiopathy (TMA) is occasionally seen in biopsies with pauci-immune necrotizing crescentic glomerulonephritis (PCGN). Recent study indicated that the complement activation is more prominent in the ANCA-negative glomerulonephritis.

Case presentation

We report a case of concurrent TMA and PCGN without ANCA positivity. Interestingly, our patient also had biopsy features supportive of Alport syndrome (AS). Genetic studies identified variants and polymorphisms in alternative complement pathway genes that confer substantial risk of developing atypical hemolytic uremic syndrome (aHUS).

Conclusions

Abnormal activation in complement pathway may represent a common pathogenic link between these three distinct entities.
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Metadata
Title
A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis
Authors
Jianling Tao
Jonathan Lieberman
Richard A. Lafayette
Neeraja Kambham
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Nephrology / Issue 1/2018
Electronic ISSN: 1471-2369
DOI
https://doi.org/10.1186/s12882-018-1170-4

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