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Kidney Week

Abstract: SA-PO532

Electronic Health Record-Based Nephrotic Syndrome Genomic Discovery Using the Mass General Brigham (MGB) Biobank

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic


  • Wongboonsin, Janewit, Brigham and Women's Hospital, Boston, Massachusetts, United States
  • Nigwekar, Sagar U., Massachusetts General Hospital, Boston, Massachusetts, United States
  • Sampson, Matt G., Boston Children's Hospital, Boston, Massachusetts, United States

Published studies demonstrating the value of genetic stratification in nephrotic syndrome (NS) have often focused on children or research cohorts selected for specific characteristics, such as having steroid resistant NS. The prevalence and clinical correlates of known genetic forms of NS in adult patients are less well understood but may have important clinical implications. The EHR-linked Biobank of the MGB, which has enrolled > 130,000 patients and conducted SNP genotyping and exome sequencing on most of them, provides a unique opportunity to identify patients with NS for subsequent genomic discovery.


We used the following strategies to identify all NS patients in the biobank. 1) Screened with ICD-10 diagnosis code of ‘nephrotic syndrome.’ 2) Applied a published computational phenotype for primary NS consisting of 8 inclusion codes and 87 exclusion codes. 3) Reviewed patients with kidney pathology data and the diagnosis code of ‘proteinuria.’ 4) Reviewed patients with kidney pathology data, regardless of diagnosis.


Strategy 1 identified 558 patients and performed manual chart reviews. The mean age was 60±15 years, and 70% of the cohort were Caucasian. 90.7% of patients had proteinuric kidney disease. Focal segmental glomerulosclerosis (FSGS) was the most common diagnosis (28.1%). Strategy 2 identified 86 patients, 22 of whom had validated diagnoses through chart review. This approach lacked specificity for primary NS as 23% of patients (5/22) did not have NS. Strategy 3 identified 819 patients, 291 of whom had validated diagnoses from strategy 1. 271/291 (93.1%) had pathology reports of native kidney disease confirming the diagnosis. Given the high yield of capturing patients with glomerular diseases through kidney pathology data, we then proceed with strategy 4, reviewing the kidney pathology data from all patients. We obtained additional 1648 patients, 334 of whom have either minimal change disease, FSGS, or membranous nephropathy. The total number of unique NS from these efforts is 564 patients.


This EHR-link biobank provided a unique opportunity for genomic discovery for nephrotic syndrome in adults. The kidney pathology data was the key to ensuring that we captured all patients with glomerular disease from the Biobank. Manual adjudication is still required to provide the correct diagnosis.


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