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Kidney Week

Abstract: SA-PO552

Underrecognition and Treatment of Autosomal Dominant Alport Syndrome in a Health System-Based Research Cohort

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


  • Solanki, Kaushal V., Geisinger Health, Danville, Pennsylvania, United States
  • Moore, Bryn S., Geisinger Health, Danville, Pennsylvania, United States
  • Strande, Natasha T., Geisinger Health, Danville, Pennsylvania, United States
  • Bucaloiu, Ion D., Geisinger Health, Danville, Pennsylvania, United States
  • Chang, Alex R., Geisinger Health, Danville, Pennsylvania, United States

Autosomal Dominant (AD) Alport Syndrome (AS) is increasingly recognized as a cause of chronic kidney disease and end-stage kidney disease (ESKD). It is unknown to what extent patients with ADAS are undiagnosed and whether they may benefit from diagnosis early in the disease course. We sought to assess whether a genetic diagnosis for ADAS was made and whether there were missed opportunities for treatment in a research cohort of participants with whole-exome sequencing data.


We used data from Geisinger MyCode-DiscovEHR, an unselected health system-based cohort with exome sequencing data linked to electronic health records (EHR). We identified participants heterozygous for rare (minor allele frequency <0.001) COL4A3 pathogenic (P) or likely pathogenic (LP) variants listed in ClinVar. Chart reviews were performed focusing on the diagnosis of ADAS, AS-related features and diagnoses, genetic testing, renal biopsy pathology, treatment with angiotensin-converting enzyme inhibitors (ACEis) or angiotensin receptor blockers (ARBs), urologic workup for hematuria, family history ( AS, thin basement membrane disease, and hereditary nephritis)


There were a total of 402/174,418 patients heterozygous for P/LP COL4A3 variants. Mean age was 59 (SD 18.7) years, 64% were female, 56% had ICD-code diagnoses for hypertension, 22% had diabetes, 7.2% had eGFR <30 ml/min/1.73m2, and 5.7% had ESKD. Over a median follow-up time of 15 years, only 118 (29%) had quantitative albuminuria testing. Only 4 patients had a clinical diagnosis of AD Alport Syndrome, 5 had documented family history, and 4 had history of kidney biopsy. Among the 338 (84%) who had urinalysis data available, 166 (49%) had trace or greater hematuria. 81 individuals had undergone urologic workup for hematuria. Of the 118 (29%) with albuminuria data, 42% had albuminuria ≥30mg/g and 17% had albuminuria ≥300 mg/g. ACEi/ARBs were underutilized in the overall population (24.5%), and even for those with hypertension (39.3%), and those with albuminuria (32.4%).


Very few patients with AD Alport Syndrome in a large health system-based research cohort had a diagnosis of ADAS, and a minority of patients were receiving guideline-recommended treatment with ACEis. Future studies should examine the benefits vs. risks of early diagnosis of ADAS.


  • NIDDK Support