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

• Main Authors: Jianling Tao, Jonathan Lieberman, Richard A. Lafayette, Neeraja Kambham
• Format: Article
• Language: English
• Published: BMC 2018-12-01
• Series: BMC Nephrology
• Subjects: Atypical hemolytic uremic syndrome; Pauci-immune glomerulonephritis; Alternative complement pathway; Thrombotic microangiopathy
• Online Access: http://link.springer.com/article/10.1186/s12882-018-1170-4
• ISSN: 1471-2369

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.