RESUMO
Two variant alleles of the gene apolipoprotein L1 (APOL1), known as risk variants (RVs), are a major contributor to kidney disease burden in those of African descent. The APOL1 protein contributes to innate immunity and may protect against Trypanosoma, HIV, Salmonella, and leishmaniasis. However, the effects of carrying 1 or more RVs contribute to a variety of disease processes starting as early as in utero and can be exacerbated by other factors (or "second hits"). Indeed, these genetic variations interact with environmental exposures, infections, and systemic disease to modify health outcomes across the life span. This review focuses on APOL1-associated diseases through the life-course perspective and discusses how early exposure to second hits can impact long-term outcomes. APOL1-related kidney disease typically presents in adolescents to young adults, and individuals harboring RVs are more likely to progress to kidney failure than are those with kidney disease who lack APOL-1 RVs. Ongoing research is aimed at elucidating the association of APOL1 RV effects with adverse donor and recipient kidney transplant outcomes. Unfortunately, there is currently no established treatment for APOL1-associated nephropathy. Long-term research is needed to evaluate the risk and protective factors associated with APOL1 RVs at different stages of life.
Assuntos
Apolipoproteína L1 , Humanos , Apolipoproteína L1/genética , Apolipoproteínas/genética , Nefropatias/genética , Predisposição Genética para Doença , Fatores de Risco , Variação Genética , Lipoproteínas HDL/genéticaRESUMO
Massive splenic infarction (MSI) is a rare complication of sickle cell disease, as the spleen generally atrophies within the first few years of life. We report a case of MSI in a 12-year-old boy with homozygous sickle cell anemia (Hb SS) whose chronic transfusion therapy resulted in hypersplenism. The occurrence of a complicated MSI in our patient should perhaps further encourage elective splenectomy in such patients, despite known potential perioperative complications and postsplenectomy risks of infection and thrombosis.
