Which gene mutation accounts for the majority of cases of adult polycystic kidney disease, and what is its gene product?
- A PKHD1 encoding fibrocystin
- B PKD1 encoding polycystin-1 ✓
- C PKD2 encoding polycystin-2
- D COL4A5 encoding the alpha-5 chain of type IV collagen
Correct answer: B. PKD1 encoding polycystin-1
Explanation
About 85 percent of autosomal dominant polycystic kidney disease cases result from PKD1 mutations on chromosome 16 encoding polycystin-1, with PKD2 on chromosome 4 accounting for the remainder. PKHD1 encodes fibrocystin in autosomal recessive childhood polycystic kidney disease, and COL4A5 causes Alport syndrome. PKD2 disease tends to be milder with later onset of end-stage renal failure.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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