Podcast
Questions and Answers
Which of the following is the most likely cause of acute loin pain in a patient with polycystic kidney disease?
Which of the following is the most likely cause of acute loin pain in a patient with polycystic kidney disease?
A patient with polycystic kidney disease presents with a neurological symptom. Which of the following is most suggestive of a ruptured intracranial aneurysm?
A patient with polycystic kidney disease presents with a neurological symptom. Which of the following is most suggestive of a ruptured intracranial aneurysm?
What is the inheritance pattern and penetrance of autosomal dominant polycystic kidney disease (ADPKD)?
What is the inheritance pattern and penetrance of autosomal dominant polycystic kidney disease (ADPKD)?
Besides the kidneys, which of the following organs is most commonly affected by cystic disease in patients with polycystic kidney disease?
Besides the kidneys, which of the following organs is most commonly affected by cystic disease in patients with polycystic kidney disease?
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Which finding on an electrocardiogram is most suggestive of changes associated with autosomal dominant polycystic kidney disease (ADPKD)?
Which finding on an electrocardiogram is most suggestive of changes associated with autosomal dominant polycystic kidney disease (ADPKD)?
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A patient with polycystic kidney disease has a palpable mass in their abdomen. What examination technique would best differentiate this from simple ascites?
A patient with polycystic kidney disease has a palpable mass in their abdomen. What examination technique would best differentiate this from simple ascites?
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A patient with polycystic kidney disease develops a stroke. What is the most likely underlying mechanism?
A patient with polycystic kidney disease develops a stroke. What is the most likely underlying mechanism?
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In patients with polycystic kidney disease, why might polycythemia be observed?
In patients with polycystic kidney disease, why might polycythemia be observed?
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What percentage of polycystic kidney disease patients develop hypertension?
What percentage of polycystic kidney disease patients develop hypertension?
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A patient with polycystic kidney disease is undergoing dialysis. What physical finding would most suggest this?
A patient with polycystic kidney disease is undergoing dialysis. What physical finding would most suggest this?
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Which of the following is a less likely composition for kidney stones in patients with ADPKD compared to the general population?
Which of the following is a less likely composition for kidney stones in patients with ADPKD compared to the general population?
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What is the typical nature of kidney involvement in Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
What is the typical nature of kidney involvement in Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
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Approximately how many times more common is ADPKD compared to Huntington's disease?
Approximately how many times more common is ADPKD compared to Huntington's disease?
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What is the approximate prevalence of ADPKD in the white population?
What is the approximate prevalence of ADPKD in the white population?
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Although ADPKD is less common in American blacks than American whites, what is the comparable outcome regarding end-stage renal disease?
Although ADPKD is less common in American blacks than American whites, what is the comparable outcome regarding end-stage renal disease?
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What percentage of patients with ADPKD require renal replacement therapy?
What percentage of patients with ADPKD require renal replacement therapy?
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Besides ADPKD, which of the following conditions may also present with bilateral renal cysts on ultrasound?
Besides ADPKD, which of the following conditions may also present with bilateral renal cysts on ultrasound?
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Which of the following is NOT explicitly mentioned as a potential complication of ADPKD in the provided text?
Which of the following is NOT explicitly mentioned as a potential complication of ADPKD in the provided text?
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Which genetic disorder is described as being 10 times less common than Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Which genetic disorder is described as being 10 times less common than Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
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A patient presents with hematuria, hypertension and lumbar pain. Considering the conditions discussed, what is the most likely underlying cause?
A patient presents with hematuria, hypertension and lumbar pain. Considering the conditions discussed, what is the most likely underlying cause?
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Study Notes
Polycystic Kidney Disease (PKD)
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Presenting Symptoms: Intermittent haematuria, acute loin pain, haematuria from cyst rupture/infection/stones, discomfort from kidney enlargement, family history of PKD, hypertension complications.
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Family History Significance: Autosomal dominant inheritance with near-100% penetrance. Strong family history increases intracranial aneurysm risk (5-20%).
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Physical Examination Considerations: Palpable kidneys (bimanual palpation, ballottement, resonant percussion), arteriovenous fistulae (dialysis), enlarged liver (cystic disease), transplanted kidney (iliac fossa), third nerve palsy (brain aneurysm), anaemia/polycythaemia (renal failure/increased erythropoiesis), hypertension (develops in 75%).
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Diagnostic Investigations: Electrocardiogram (ECG) for left ventricular hypertrophy (more pronounced in PKD than other renal disorders), microscopic haematuria analysis.
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Systemic nature: PKD is not just kidney disease; it's a systemic disorder affecting other organs (liver, pancreas, possibly heart, brain).
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Prevalence: Extremely common genetic disease (~12.5 million worldwide), significantly more common than other diseases like sickle cell disease, cystic fibrosis, and Huntington’s disease. Common in the white population (~1 in 3000), less frequent in African populations and American blacks but similar end-stage renal disease incidence to whites. 50% eventually require renal replacement therapy.
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Kidney Involvement: Universally bilateral. Unilateral cases are likely multicystic renal dysplasia.
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Other Conditions with Similar Ultrasound Findings: Multiple simple renal cysts, autosomal recessive PKD in children, tuberous sclerosis, and von Hippel–Lindau syndrome.
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Diagnosis Criteria (Ultrasound): Requires further clarification regarding specific ultrasound criteria (no specifics given).
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Description
This quiz covers key aspects of Polycystic Kidney Disease (PKD), including presenting symptoms, family history significance, physical exam considerations, and diagnostic investigations. Understand the systemic nature of PKD and its implications for patients.
