Pediatric forms are typically categorized as: congenital onset ( NPHS1, NPHS2, WT1, LAMB2, PLCE1, LMX1B), infantile onset ( ACTN4, COQ2, COQ6), or adolescent onset ( LAMB2, COL4A3, COL4A4, COL4A5). Monogenic forms of FSGS are associated with variants in genes expressed in either the podocyte or the glomerular basement membrane. 4 Although CG is not common in young children, 30% of pediatric patients with FSGS have an underlying genetic cause identifiable through next generation sequencing. Next-generation sequencing (NGS) based sequencing for genetic variants involved in SRNS or FSGS can inform diagnosis and guide the healthcare provider in treatment.Ĭollapsing glomerulopathy (CG) is a subtype of FSGS and reported to be the most common in individuals of African descent. The remaining SRNS population can progress to CKD and ESRD. In children and young adults, approximately 80% respond to steroid treatments. These patients can be classified by their response to steroid treatment: steroid sensitive nephrotic syndrome (SSNS) or steroid resistant nephrotic syndrome (SRNS). Nephrotic syndrome is typically defined by edema, hypoalbuminemia, hyperlipidemia, and proteinuria, and can lead to FSGS and end-stage renal disease (ESRD). Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in many renal disorders presenting with proteinuria and declining renal function. 1 – 3 While linked to morbidity and mortality, CKD is also associated with an increase in cardiovascular disease. With a prevalence of 1.5 - 3 per million, many of the children under age 16 years diagnosed annually with CKD have an underlying genetic cause or predisposition. While in adults it often is associated with diabetic complications, genetic variants can be the underlying cause in children and adults alike. These clinically actionable results guided medical care and improved patient outcomes.Ĭhronic kidney disease (CKD) has major morbidity and mortality for children and adults. We identified genetic variants in 11 genes ( NPHS1 NPHS2 LAMB2 WT1 COL4A4 COL4A5 COQ8B CUBN MEFV PMM2 SMARCAL1) known to be associated with pediatric onset nephrotic syndrome, or detection of the high-risk haplotype of APOL1, in the majority (78%) of patients tested. A collapsing glomerulopathy in Black patients with COVID-19 was found to be associated with the APOL1 predisposition of the known G1 and/or G2 risk variants. In early 2020, as COVID-19 spread across the globe, reports of patients with kidney failure began to emerge. It is significantly associated with two “risk alleles” defined as G1 and G2 and typically found in individuals of African descent. Apolipoprotein L1 ( APOL1) associated nephropathy is reported along a spectrum of non-diabetic kidney disease. ![]() Beginning in 2016 with the emergence of more affordable next-generation sequencing (NGS) technologies, the Molecular Diagnostics Lab at Nemours Children’s Hospital-Delaware developed the first clinically actionable pediatric NGS kidney panel comprised of 46 genes including APOL1. While in adults CKD often is associated with diabetic complications, genetic variants can be the underlying cause in both populations. Chronic kidney disease (CKD) has major morbidity and mortality for children and adults.
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