The Genetics of Ultra-Rare Renal Disease.
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.
Division of Pediatric Nephrology, University of Nebraska Medical Center, Omaha, Nebraska, United States.
Melissa
M
Muff-Luett
Division of Pediatric Nephrology, Dialysis and Transplantation, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States; Molecular Otolaryngology and Renal Research Laboratory, University of Iowa, Iowa City, Iowa, United States.
Carla M
CM
Nester
C3 glomerulopathy; atypical hemolytic uremic syndrome; complement; thrombotic microangiopathy