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ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

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Kidney Week

Abstract: PO1609

Patient Journey in Alport Syndrome

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Lopshire, Mariah, Sanofi Genzyme, Cambridge, Massachusetts, United States
  • Joshi, Dhaivat, Sanofi Genzyme, Cambridge, Massachusetts, United States
  • Gould, Rebecca, Fulcrum Research Group, Waltham, Massachusetts, United States
  • Wu, Emily, Fulcrum Research Group, Waltham, Massachusetts, United States
  • Day, Daniel, Fulcrum Research Group, Waltham, Massachusetts, United States
  • Hariri, Ali, Sanofi Genzyme, Cambridge, Massachusetts, United States

Patients with Alport Syndrome(AS) experience difficulties in diagnosis. Misdiagnosis remains frequent even after detailed clinical and pathological assessment. Qualitative interviews were conducted with patients diagnosed with AS and caregivers, to better understand the patient experience.


Thirty-nine Interviews (16 male and 23 females >18 years) from the United States, United Kingdom, France, Japan, and Germany were conducted with patients and caregivers. Respondents were recruited by each country’s Alport advocacy groups. Responses were summarized and presented quantitatively and qualitatively.


Thirty-nine participants (20 patients, 4 caregivers, 15 respondents being patients themselves and caregivers) completed the interview; and shared their experience as patients, or that of the patients they care for (interviews reflect 32 firsthand patient experiences, and 7 patient experiences from caregivers; mean age=34). Thirty-four patients experienced their first symptoms as children (mean=9 yrs). Seventy-nine percent experienced hematuria before diagnosis. Despite early signs, diagnosis was delayed. Males recorded hearing loss more than females (2/3 vs. 1/3 respectively) and at earlier ages (adolescent for males vs. females in 20-30s). Males consulted a nephrologist earlier than females (median age: 12 vs. 28) and were diagnosed ~15 years earlier than females (median age=16, female=31). The median delay in diagnosis from first symptom onset was 15 years (males=11, females=26). Two-thirds of patients were diagnosed with genetic testing and/or renal biopsy. The remainder were diagnosed by an array of treatment criteria (16 genetic, 16 biopsies, 9 others). Patients on delayed diagnosis sometimes receive inconclusive or no biopsy results. Based on current standard of care, dialysis or transplant is seen as inevitable future outcome. The same population included patients with dialysis (n=7) and transplant (n=5) experience. Participants perceived transplant as an improvement of renal symptoms compared to dialysis.


Diagnosis can take years. Initial symptoms such as hematuria alone would not raise the suspicion for AS. Delays in diagnosis have significant psychosocial impact on patients and caregivers. While dialysis and transplant are considered inevitable outcomes of the disease, patients and caregivers recognize the unmet need for future disease specific treatments.


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