Genetic Steroid-Resistant Nephrotic Syndrome Overview

Excerpt

The purpose of this overview is to provide clinically relevant information regarding genetic steroid-resistant nephrotic syndrome (SRNS), strategies to establish the diagnosis, management, and genetic counseling.

The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of genetic steroid-resistant nephrotic syndrome.

Goal 2: Review the genes known to be associated with genetic steroid-resistant nephrotic syndrome.

Goal 3: Provide an evaluation strategy to identify the cause of genetic steroid-resistant nephrotic syndrome in a proband (when possible).

Goal 4: Review phenocopies of genetic steroid-resistant nephrotic syndrome.

Goal 5: Review management of genetic steroid-resistant nephrotic syndrome.

Goal 6: Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of genetic steroid-resistant nephrotic syndrome.