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

被引:26
作者
Reidy, Kimberly J. [1 ]
Hjorten, Rebecca [1 ,2 ]
Parekh, Rulan S. [3 ,4 ,5 ]
机构
[1] Childrens Hosp Montefiore, Albert Einstein Coll Med, Bronx, NY USA
[2] Cincinnati Childrens Hosp Med Ctr, Dept Nephrol & Hypertens, Cincinnati, OH 45229 USA
[3] Hosp Sick Children, Univ Hlth Network, Dept Pediat, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
[4] Hosp Sick Children, Univ Hlth Network, Dept Med, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
[5] Univ Toronto, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
基金
美国国家卫生研究院;
关键词
APOL1; children; end-stage renal disease; focal segmental glomerulosclerosis; genetics; kidney disease; STAGE RENAL-DISEASE; APOLIPOPROTEIN L1; VARIANTS; NEPHROPATHY; AMERICAN; GENOTYPE; RACE; PROGRESSION; PROTEIN; MYH9;
D O I
10.1097/MOP.0000000000000603
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
引用
收藏
页码:252 / 259
页数:8
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