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J Pediatr Genet 2016; 05(01): 033-042
DOI: 10.1055/s-0036-1572515
Review Article
Georg Thieme Verlag KG Stuttgart · New York

The Genetics of Ultra-Rare Renal Disease

Melissa Muff-Luett
1   Division of Pediatric Nephrology, University of Nebraska Medical Center, Omaha, Nebraska, United States
,
Carla M. Nester
2   Division of Pediatric Nephrology, Dialysis and Transplantation, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
3   Molecular Otolaryngology and Renal Research Laboratory, University of Iowa, Iowa City, Iowa, United States
› Author Affiliations
Further Information

Publication History

15 July 2015

02 December 2015

Publication Date:
23 February 2016 (online)

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Abstract

The complement-mediated renal diseases are a group of ultra-rare renal diseases that disproportionately affect children and young adults and frequently lead to irreversible renal failure. Genetic mutations in alternate pathway of complement genes are pathomechanistically involved in a significant number of these unique diseases. Here, we review our current understanding of the role of genetics in the primary complement-mediated renal diseases affecting children, with a focus on atypical hemolytic uremic syndrome and C3 glomerulopathy. Also, included is a brief discussion of the related diseases whose relationship to complement abnormality has been suspected but not yet confirmed. Advances in genetics have transformed both treatment and outcomes in these historically difficult to treat, highly morbid diseases.

Keywords

complement - atypical hemolytic uremic syndrome - C3 glomerulopathy - thrombotic microangiopathy

Note

Dr. Nester is supported by the Stead Family Department of Pediatrics, University of Iowa.


 

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