Journal article
The Genetics of Ultra-Rare Renal Disease
Journal of pediatric genetics (Birmingham, Ala.), Vol.5(1), pp.33-42
Genetic Advances in Childhood Nephrological Disorders
03/2016
DOI: 10.1055/s-0036-1572515
PMCID: PMC4918710
PMID: 27617140
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.
Details
- Title: Subtitle
- The Genetics of Ultra-Rare Renal Disease
- Creators
- Melissa Muff-Luett - Division of Pediatric Nephrology, University of Nebraska Medical Center, Omaha, Nebraska, United StatesCarla M Nester - Division of Pediatric Nephrology, Dialysis and Transplantation, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric genetics (Birmingham, Ala.), Vol.5(1), pp.33-42
- Publisher
- Georg Thieme Verlag KG
- Series
- Genetic Advances in Childhood Nephrological Disorders
- DOI
- 10.1055/s-0036-1572515
- PMID
- 27617140
- PMCID
- PMC4918710
- ISSN
- 2146-4596
- eISSN
- 2146-460X
- Language
- English
- Date published
- 03/2016
- Academic Unit
- Nephrology, Dialysis and Transplantation; Stead Family Department of Pediatrics; Internal Medicine
- Record Identifier
- 9984093354202771
Metrics
30 Record Views