USMLE Forum Archives - USMLE Step 2 CK - kidney cyst
kidney cyst
conym5 - 02-10-10 07:53
32years old male who was brought up by foster parents, today for his health maintainance visit, informed you that he recently found that his father died at age of 40 due to some kidney and brain problem and he is concerned that he might have the same thing too. 6months ago due to road side accident his brain CT and abdominal CT was completely normal, his BP and urine analysis on this visit is completely normal, what would be next best step for screening of this pt for ADPKD?
conym5 - 02-10-10 07:53
32years old male who was brought up by foster parents, today for his health maintainance visit, informed you that he recently found that his father died at age of 40 due to some kidney and brain problem and he is concerned that he might have the same thing too. 6months ago due to road side accident his brain CT and abdominal CT was completely normal, his BP and urine analysis on this visit is completely normal, what would be next best step for screening of this pt for ADPKD?
The correct answer and explanation will be available after you answer.
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#3
Re: kidney cyst
conym5 - 02-10-10 10:47 Diagnosis of autosomal dominant adult polycystic kidney disease (APKD) is possible by ultrasonographic scanning (USS) or by using DNA markers linked to the PKD1 locus. Ultrasonography is complicated by the age dependent penetrance of the gene and linkage studies are subject to recombination errors owing to meiotic crossing over and locus heterogeneity.
#6
Re: kidney cyst
mtniharika - 02-11-10 02:13 My answer is: b.
Individuals at risk for developing ADPKD are commonly screened by imaging techniques such as ultrasound. Diagnosis can also be made with a genetic test that detects mutations in the two genes that cause the disease, called PKD1 and PKD2. However, gene-based diagnosis is expensive
#7
Re: kidney cyst
conym5 - 02-11-10 09:01 newly described framesfift mutations in PKD1 seem to be associated with more severe clinical course of ADPKD. Previously described nonsense mutation in PKD2 seems to be associated with cysts in liver and milder clinical course.
#14
Re: kidney cyst
bingousmle - 05-04-10 13:38 My answer is: b.
Genetic studies for PKD1 and PKD2 is expensive as compared to other measures like regular ultrasound of the abdomen to screen in this patient as he is genetically predisposed to develop the disease
#19
Re: kidney cyst
babbu5508 - 05-20-10 03:31 My answer is: b.
polycystic kidney disease and associated cysts on the liver or other organs may be detected with the following tests:
Abdominal ultrasound
Abdominal CT scan
Abdominal MRI scan
IVP
In a family with several members with PKD, genetic tests can be done to determine whether a person at risk carries the PKD gene.
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