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10.1055/s-0036-1572515

http://scihub22266oqcxt.onion/10.1055/s-0036-1572515
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C4918710!4918710!27617140
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suck abstract from ncbi

pmid27617140      J+Pediatr+Genet 2016 ; 5 (1): 33-42
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  • The Genetics of Ultra-Rare Renal Disease #MMPMID27617140
  • Muff-Luett M; Nester CM
  • J Pediatr Genet 2016[Mar]; 5 (1): 33-42 PMID27617140show ga
  • 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.
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