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Kidney Week

Abstract: PO1282

A Case of Mistaken Identity: Alport Syndrome Masquerading as Polycystic Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic


  • Amari, Kana R., Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
  • Tuazon, Jennifer A., Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States

Alport Syndrome (AS) is an inherited nephritis caused by a collagen-IV-related mutation leading to abnormalities in the glomerular basement membrane. Patients may present with unexplained hematuria, proteinuria, with or without renal insufficiency.
Here, we describe two cases of patients presenting with multiple bilateral renal cysts, initially diagnosed with autosomal dominant polycystic kidney disease(ADPKD), and who were later found to have Alport syndrome via genetic testing.

Case Description

We report two cases of patients followed in our nephrology clinic who were initially thought to have ADPKD. The first patient is a 75-year-old woman who was followed for long-standing hematuria, CKD3bA3, innumerable bilateral renal cysts, few livers cysts, cerebral aneurysms, and a family history of cystic kidney disease. Due to normal kidney sizes, genetic testing was done which revealed a pathogenic COL4A3 mutation, c.1372G>C (p.Gly458ARg). Our second patient is a 64-year-old man with a history of hematuria, CKD3aA2, sensorineural hearing loss, retinal detachment, and family history of hematuria. His genetic testing revealed an X-linked COL4A5 mutation c.367G>C (p.Gly123Arg).


Very few cases have described an association with AS and cystic kidney disease. The causal mechanism for renal cyst formation and Alport syndrome is unknown. These cases illustrate the importance of considering alternate diagnosis when suspected ADPKD has atypical features such as normal kidney sizes or kidney dysfunction more than expected for the cyst burden.

Case #1 Bilateral renal cysts in COL4A3-related Alport syndrome

Case #2 Bilateral renal cysts in X-linked Alport syndrome