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Updated: Mar 3, 2026
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The Inheritance Puzzle: A Case of Dual Genetic Kidney Disease
Sabarinath Shanmugam1, Karthikeyan Manoharan1, Sreejith Parameswaran1
1Department of Nephrology, JIPMER, Puducherry, India.
Nephrology (Carlton, Vic.)
|March 1, 2026
Summary
This case highlights a rare dual diagnosis of Autosomal Dominant Polycystic Kidney Disease (ADPKD) and X-Linked Alport Syndrome (AS). Advanced genetic testing revealed mosaicism in the mother, crucial for diagnosing complex inherited kidney diseases.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Autosomal Dominant Polycystic Kidney Disease (ADPKD) and X-Linked Alport Syndrome (AS) are leading monogenic causes of chronic kidney disease (CKD).
- Concurrent diagnosis of ADPKD and AS is rare and diagnostically challenging.
- Both conditions can independently progress to end-stage kidney disease (ESKD).
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