Update on APOL1 and chronic kidney diseases in children

Area of Science:

• Nephrology
• Genetics
• Pediatrics

Background:

• Chronic kidney disease (CKD) disproportionately affects individuals of African ancestry.
• Apolipoprotein L1 (APOL1) gene variants are key risk factors for CKD in this population.
• APOL1 variants are linked to glomerular diseases, transplant outcomes, and pregnancy complications.

Purpose of the Study:

• To review current knowledge of APOL1 gene variants and kidney disease (AMKD).
• To focus on the impact of APOL1 variants in pediatric populations.
• To highlight the need for increased pediatric research in AMKD.

Main Methods:

• Literature review of studies on APOL1 gene variants and kidney disease.
• Analysis of genotype-phenotype associations in adult and pediatric populations.
• Examination of current and emerging therapeutic strategies for AMKD.

Main Results:

• High-risk APOL1 genotypes are associated with increased CKD risk and specific glomerular diseases in Black adults.
• APOL1 variants influence kidney transplant outcomes and pregnancy complications.
• Emerging data suggest APOL1 variants impact pediatric steroid-resistant nephrotic syndrome and CKD progression.

Conclusions:

• APOL1 gene variants are critical determinants of kidney disease risk and outcomes, particularly in individuals of African ancestry.
• Pediatric studies on APOL1 kidney disease are limited but show similar genotype-phenotype associations.
• Further research including children is essential to understand AMKD epidemiology, mechanisms, and long-term outcomes.