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关注 Apol1 与儿童肾脏病的关联。

A focus on the association of Apol1 with kidney disease in children.

机构信息

Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

Division of Nephrology, Department of Pediatrics, Faculty of Medicine, University Hospital of Kinshasa, University of Kinshasa, Kinshasa, Democratic Republic of Congo.

出版信息

Pediatr Nephrol. 2021 Apr;36(4):777-788. doi: 10.1007/s00467-020-04553-z. Epub 2020 Apr 6.

DOI:10.1007/s00467-020-04553-z
PMID:32253519
Abstract

Individuals of African origin have an increased risk of developing various progressive chronic kidney diseases (CKD). This risk has been attributed to genetic variants (G1, G2) in apolipoprotein-L1 (APOL1) gene. In the pediatric population, especially in children affected by sickle cell disease (SCD), by human immunodeficiency virus (HIV), or with various glomerular diseases, APOL1 risk variants have been associated with the development of hypertension, albuminuria, and more rapid decline of kidney function. The present review focuses on existing APOL1-related epidemiological data in children with CKD. It also includes data from studies addressing racial disparities in CKD, the APOL1-related innate immunity, and the relationship between APOL1 and CKD and pathogenic pathways mediating APOL1-related kidney injury.

摘要

非洲裔个体发生各种进行性慢性肾脏病(CKD)的风险增加。这种风险归因于载脂蛋白-L1(APOL1)基因中的遗传变异(G1、G2)。在儿科人群中,特别是在患有镰状细胞病(SCD)、人类免疫缺陷病毒(HIV)或各种肾小球疾病的儿童中,APOL1 风险变异与高血压、蛋白尿和肾功能更快下降有关。本综述重点介绍了与 CKD 儿童相关的现有 APOL1 相关流行病学数据。它还包括了研究种族差异、APOL1 相关先天免疫以及 APOL1 与 CKD 之间关系以及介导 APOL1 相关肾损伤的致病途径的相关数据。

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本文引用的文献

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Risk Genotypes Are Associated With Early Kidney Damage in Children in Sub-Saharan Africa.风险基因型与撒哈拉以南非洲儿童的早期肾脏损害有关。
Kidney Int Rep. 2019 Apr 11;4(7):930-938. doi: 10.1016/j.ekir.2019.04.002. eCollection 2019 Jul.
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Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.儿童期肾病综合征的遗传学:2019 年核心课程。
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Cells. 2021 Jul 28;10(8):1914. doi: 10.3390/cells10081914.
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Sickle cell nephropathy: insights into the pediatric population.镰状细胞肾病:儿科人群的相关认识。
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Evolutionary history of sickle-cell mutation: implications for global genetic medicine.镰状细胞突变的进化史:对全球遗传医学的影响。
Hum Mol Genet. 2021 Apr 26;30(R1):R119-R128. doi: 10.1093/hmg/ddab004.
APOL1-miR193a 轴的破坏导致足细胞肌动蛋白细胞骨架紊乱。
Sci Rep. 2019 Mar 5;9(1):3582. doi: 10.1038/s41598-019-39376-y.
4
APOL1 risk allele RNA contributes to renal toxicity by activating protein kinase R.载脂蛋白L1风险等位基因RNA通过激活蛋白激酶R导致肾毒性。
Commun Biol. 2018 Nov 7;1:188. doi: 10.1038/s42003-018-0188-2. eCollection 2018.
5
Mechanisms of Injury in APOL1-associated Kidney Disease.APOL1 相关肾脏疾病的发病机制。
Transplantation. 2019 Mar;103(3):487-492. doi: 10.1097/TP.0000000000002509.
6
Kidney Disease in African American Children: Biological and Nonbiological Disparities.非裔美国儿童的肾脏病:生物学和非生物学差异。
Am J Kidney Dis. 2018 Nov;72(5 Suppl 1):S17-S21. doi: 10.1053/j.ajkd.2018.06.025.
7
Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1-second gene interactions.全基因组关联研究表明,APOL1-环境相互作用比强 APOL1-第二基因相互作用更有可能引发非裔美国人的非糖尿病肾病。
Kidney Int. 2018 Sep;94(3):599-607. doi: 10.1016/j.kint.2018.03.017. Epub 2018 Jun 7.
8
The Long-Term Kidney Transplantation Outcomes Network-APOLLO.长期肾移植结局网络-阿波罗计划
Clin J Am Soc Nephrol. 2018 Jun 7;13(6):940-942. doi: 10.2215/CJN.01510218. Epub 2018 Apr 27.
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JC polyoma viruria associates with protection from chronic kidney disease independently from apolipoprotein L1 genotype in African Americans.JC 多瘤病毒尿症与非裔美国人慢性肾脏病的保护相关,与载脂蛋白 L1 基因型无关。
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10
Genetic risk of APOL1 and kidney disease in children and young adults of African ancestry.非洲裔儿童和青年的 APOL1 基因风险与肾脏疾病。
Curr Opin Pediatr. 2018 Apr;30(2):252-259. doi: 10.1097/MOP.0000000000000603.