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Genetic risk of APOL1 and kidney disease in children and young adults of African ancestry

机译:非洲血统儿童APOL1和肾病的遗传风险

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Purpose of reviewUnderstanding the genetic risk of APOL1 in children and young adults is important given the lifetime risk of hypertension and kidney disease among children of African descent. We review recent epidemiologic and biologic findings on the effects of APOL1 and kidney disease.Recent findingsAPOL1 in children and young adults is associated with hypertension, albuminuria and more rapid decline in kidney function and progression to end-stage kidney disease, especially among those with glomerular causes of kidney disease, and those affected by sickle cell disease or HIV. There are conflicting data on the APOL1 association with cardiovascular disease in children and young adults. APOL1 functions as part of the innate immune system. Podocyte expression of APOL1 likely contributes to the development of kidney disease. In cell culture and model organisms, APOL1 expression disrupts autophagic and ion flux, leads to defects in mitochondrial respiration and induces cell death.SummaryAPOL1 explains almost 70% of the excess risk of kidney disease in those of African descent, and is common in children with glomerular disease. An evolving understanding of the pathogenesis of APOL1-mediated kidney damage may aid in personalized medicine approaches to APOL1 attributable kidney disease.
机译:鉴于非洲血统儿童的高血压和肾病的寿命风险,审查儿童和年轻成人遗传风险的目的很重要。我们审查了最近对Apol1和肾病的影响的流行病学和生物学发现。儿童和年轻成人的特征普通1与高血压,白蛋白尿和肾功能较快下降有关,肾功能和进展到末期肾病,特别是肾小球的肾病肾病的原因,以及受镰状细胞病或艾滋病毒影响的原因。在儿童和年轻成年人的心血管疾病中存在对APOL1关联有冲突的数据。 APOL1作为先天免疫系统的一部分。 Podocyte Apol1的表达可能有助于肾病的发展。在细胞培养和模型生物中,Apol1表达破坏了自噬和离子通量,导致线粒体呼吸的缺陷,并诱导细胞死亡。ummaryapol1解释了非洲下降的那些肾脏疾病风险的近70%,并且在儿童中常见肾小球疾病。一种不断发展的对Apol1介导的肾脏损伤发病机制的理解可能有助于个性化药物方法对Apol1遗传肾病。

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