Renal & GI Pathology · NEET PG Preparation Pathology
A 45-year-old man presents with gross hematuria and hypertension. His father died of end-stage renal disease due to an inherited condition. Ultrasoun…
Practice question from Renal & GI Pathology (NEET PG Preparation Pathology), with the correct answer and a step-by-step solution.
easy · MCQ · Q-B5BE4B
A 45-year-old man presents with gross hematuria and hypertension. His father died of end-stage renal disease due to an inherited condition. Ultrasound reveals symmetrically enlarged kidneys containing numerous bilateral cysts. Which of the following genetic abnormalities is most frequently associated with this patient's condition?
- A.Mutation in PKD1 gene on chromosome 16Correct answer
- B.Mutation in PKHD1 gene on chromosome 6
- C.Mutation in TSC1 gene on chromosome 9
- D.Mutation in VHL gene on chromosome 3
Solution
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by mutations in the PKD1 gene (encoding polycystin-1, located on chromosome 16) in about 85% of cases, or the PKD2 gene on chromosome 4. PKHD1 mutations cause autosomal recessive polycystic kidney disease (ARPKD).
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