Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019

Andreia Watanabe,* Luciana S. Feltran,* and Matthew G. Sampson

Objective: 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

Key findings: 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.

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