USMLE Forum Archives - USMLE Step 1 - APKD
APKD
drspleen - 03-18-11 17:50
The CT shown demonstrates several large renal cysts. The study was performed in a 37-year-old female with end stage renal failure requiring hemodialysis. Her father and paternal grandmother both also died of complications relating to renal failure. Which gene and chromosome are involved?
* A. APKD1, chromosome 4
* B. APKD1, chromosome 16
* C. TSC1, chromosome 16
* D. APKD2, chromosome 16
* E. NF1, chromosome 17
drspleen - 03-18-11 17:50
The CT shown demonstrates several large renal cysts. The study was performed in a 37-year-old female with end stage renal failure requiring hemodialysis. Her father and paternal grandmother both also died of complications relating to renal failure. Which gene and chromosome are involved?
* A. APKD1, chromosome 4
* B. APKD1, chromosome 16
* C. TSC1, chromosome 16
* D. APKD2, chromosome 16
* E. NF1, chromosome 17
The correct answer and explanation will be available after you answer.
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#1
Re: APKD babbu5508 - 03-18-11 18:40 My answer is: b.
Mutations in the PKD-1 gene on chromosome 16 (ADPKD-1) account for 85% of cases, whereas mutations in the PKD-2 gene on chromosome 4 (ADPKD-2) represent the remainder.
#2
Re: APKD sudha2015 - 03-19-11 10:29 The CT shown demonstrates several large renal cysts. The study was performed in a 37-year-old female with end stage renal failure requiring hemodialysis. Her father and paternal grandmother both also died of complications relating to renal failure. Which gene and chromosome are involved?
b
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