Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center.
Cristiana MaximianoAndreia SilvaInês DuroTiago BrancoLiane Maria Correia Rodrigues da Costa Nogueira SilvaAna TeixeiraLiliana RochaTeresa CostaPaula MatosMaria do Sameiro Pinto César de FariaMaria da Conceição Oliveira Costa MotaAlberto Caldas AfonsoPublished in: Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia (2021)
In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed.