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Am J Kidney Dis. 2019 Apr 4. pii: S0272-6386(19)30165-9. doi: 10.1053/j.ajkd.2019.01.033. [Epub ahead of print]

Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.

Author information

1
Department of Pediatrics, Pediatric Nephrology Unit, Instituto da Crianca, University of Sao Paulo School of Medicine.
2
Nephrology Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
3
Department of Pediatrics-Nephrology, 4 Center for Computational Medicine and Bioinformatics, University of Michigan School of Medicine, Ann Arbor, MI. Electronic address: mgsamps@med.umich.edu.

Abstract

Nephrotic syndrome (NS) is one of the most challenging conditions to manage and treat, partly because we lack a specific molecular understanding of its pathogenesis and progression. This limits our ability to provide targeted therapy or precise prognostications. Fortunately, genomic discovery in NS and its translation to genomic-informed medicine is allowing us to improve our understanding of the molecular anatomy of NS and our ability to care for patients with NS. In this Core Curriculum, we review the specific genes and loci discovered in childhood NS, specifically NS of Mendelian origin, APOL1-associated NS in black patients, HLA region variants associated with steroid-sensitive NS, their biological impacts, prevalence across populations, and clinical correlates. We also review the fundamentals of genetic architecture of human disease, technologies, and analytic strategies that currently exist to discover disease-related genetic variations. A facility with the concepts and vocabulary of modern genomics and ability to interpret results of genetic studies are essential skills for nephrologists caring for children with NS. As such, we hope to empower them to understand the literature in this area, appropriately order genetic tests and accurately interpret the results, and consider how they may participate in or drive the next wave of genomic discoveries in NS.

KEYWORDS:

APOL1; Genomic; Mendelian disease; children; focal segmental glomerulosclerosis (FSGS); gene discovery; genetic; genetic counseling; kidney disease; mutation; nephrotic syndrome (NS); pediatric; phenocopy; precision medicine; racial disparities; review; risk allele; sequence variant

PMID:
30955946
DOI:
10.1053/j.ajkd.2019.01.033

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