RESUMO
A male infant was diagnosed with atypical hemolytic uremic syndrome (aHUS) at the age of 5.5 months. Sequencing of the gene (CFH) encoding complement factor H revealed a heterozygous mutation (c.3644G>A, p.Arg1215Gln). Despite maintenance plasmapheresis he developed recurrent episodes of aHUS and vascular access complications while maintaining stable renal function. At the age of 5 years he received an isolated split liver graft following a previously established protocol using pretransplant plasma exchange (PE) and intratransplant plasma infusion. Graft function, renal function and disease remission are preserved 2 years after transplantation. Preemptive liver transplantation prior to the development of end stage renal disease is a valuable option in the management of aHUS associated with CFH mutations.
Assuntos
Fator H do Complemento/genética , Síndrome Hemolítico-Urêmica/genética , Síndrome Hemolítico-Urêmica/cirurgia , Transplante de Fígado , Mutação , Infecções por Caliciviridae/etiologia , Gastroenterite/virologia , Síndrome Hemolítico-Urêmica/fisiopatologia , Herpesvirus Humano 4 , Heterozigoto , Humanos , Recém-Nascido , Rim/fisiopatologia , Transplante de Fígado/efeitos adversos , Masculino , Norovirus , Complicações Pós-Operatórias , Medição de Risco , Prevenção Secundária , Viremia/etiologiaRESUMO
BACKGROUND: In chronic renal failure, metabolic acidosis is associated with increased whole body protein degradation. In rats this effect of acidosis occurs in skeletal muscle and is associated with increased ubiquitin mRNA expression. This has not been demonstrated in humans. MATERIALS AND METHODS: Six patients with chronic renal failure and acidosis underwent muscle biopsy before and after 1 month's treatment with sodium bicarbonate. RNA was extracted from the biopsy, and the expression of the genes for ubiquitin and the proteasome component, C2, were measured by Northern blotting. RESULTS AND CONCLUSIONS: There was no significant difference in the expression of ubiquitin or C2 after bicarbonate treatment. This is contrast with results from animal models of acidosis and some other catabolic conditions in humans. This may reflect the complexity of the ubiquitin-dependent pathway, and it may be that changes in ubiquitin expression are only seen with more severe and/or acute changes in pH.