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首页> 美国卫生研究院文献>Nephrology Dialysis Transplantation >APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts
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APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts

机译：非洲裔美国儿童中与APOL1相关的肾小球疾病：儿童慢性肾脏病（CKiD）与肾病综合症研究网络（NEPTUNE）队列的合作

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>Background: Individuals of African ancestry harboring two variant alleles within apolipoprotein L1 (APOL1) are classified with a high-risk (HR) genotype. Adults with an HR genotype have increased risk of focal segmental glomerulosclerosis and chronic kidney disease compared with those with a low-risk (LR) genotype (0 or 1 variants). The role of APOL1 risk genotypes in children with glomerular disease is less well known. >Methods: This study characterized 104 African-American children with a glomerular disease by APOL1 genotype in two cohorts: the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE). >Results: Among these subjects, 46% had an HR genotype with a similar age at cohort enrollment. For APOL1 HR children, the median age of disease onset was older (CKiD: 4.5 versus 11.5 years for LR versus HR; NEPTUNE: 11 versus 14 years for LR versus HR, respectively) and preterm birth was more common [CKiD: 27 versus 4%; NEPTUNE: 26 versus 12%; combined odds ratio 4.6 (95% confidence interval: 1.4, 15.5)]. Within studies, HR children had lower initial estimated glomerular filtration rate (eGFR) (CKiD: 53 versus 69 mL/min/1.73 m2; NEPTUNE: 74 versus 94 mL/min/1.73 m2). Longitudinal eGFR decline was faster among HR children versus LR (CKiD: −18 versus −8% per year; NEPTUNE: −13 versus −3% per year). >Conclusions: Children with an HR genotype in CKiD and NEPTUNE seem to have a more aggressive form of glomerular disease, in part due to a higher prevalence of focal segmental glomerulosclerosis. These consistent findings across independent cohorts suggest a common natural history for children with APOL1-associated glomerular disease. Further study is needed to determine the generalizability of these findings.
机译：>背景：在载脂蛋白L1（APOL1）中具有两个变异等位基因的非洲血统个体被归类为高风险（HR）基因型。与具有低风险（LR）基因型（0或1个变体）的成年人相比，具有HR基因型的成年人发生局灶性节段性肾小球硬化症和慢性肾脏疾病的风险增加。尚不清楚APOL1风险基因型在肾小球疾病患儿中的作用。 >方法：该研究通过两个队列中的APOL1基因型对104名非洲裔美国儿童的肾小球疾病进行了分类：儿童慢性肾脏病（CKiD）和肾病综合症研究网络（NEPTUNE）。 >结果：在这些受试者中，有46％的HR基因型与入组时年龄相似。对于APOL1 HR儿童，疾病发作的中位年龄较大（LR与HR分别为CKiD：4.5与11.5岁； NEPTUNE：LR与HR分别为11与14岁），早产更为常见[CKiD：27与4 ％;尼泊尔：26％对12％；综合比值比为4.6（95％置信区间：1.4、15.5）]。在研究中，HR儿童的初始估计肾小球滤过率（eGFR）较低（CKiD：53 vs. 69 mL / min / 1.73 m 2 ； NEPTUNE：74 vs. 94 mL / min / 1.73 m 2 ）。与LR相比，HR儿童的纵向eGFR下降更快（CKiD：-18 VS -8％每年； NEPTUNE：-13 VS -3％每年）。 >结论：在CKiD和NEPTUNE中具有HR基因型的儿童似乎患有更具侵略性的肾小球疾病，部分原因是局灶性节段性肾小球硬化的患病率更高。这些在独立队列中的一致发现提示，患有APOL1相关性肾小球疾病的儿童具有共同的自然病史。需要进一步研究以确定这些发现的一般性。

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