Podcast
Questions and Answers
What are the typical symptoms associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
What are the typical symptoms associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Which of the following imaging modalities is commonly used to diagnose Polycystic Kidney Disease (PKD)?
Which of the following imaging modalities is commonly used to diagnose Polycystic Kidney Disease (PKD)?
What is a potential complication of Autosomal Dominant Polycystic Kidney Disease (ADPKD) that can affect the brain?
What is a potential complication of Autosomal Dominant Polycystic Kidney Disease (ADPKD) that can affect the brain?
Which of the following is a characteristic feature of Autosomal Recessive Polycystic Kidney Disease (ARPKD) that can be fatal during infancy?
Which of the following is a characteristic feature of Autosomal Recessive Polycystic Kidney Disease (ARPKD) that can be fatal during infancy?
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Which of the following treatments aims to prevent complications and progression to End-Stage Renal Disease (ESRD) in patients with Polycystic Kidney Disease (PKD)?
Which of the following treatments aims to prevent complications and progression to End-Stage Renal Disease (ESRD) in patients with Polycystic Kidney Disease (PKD)?
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Which of the following measures is recommended to help slow down the progression of cysts in patients with Polycystic Kidney Disease (PKD)?
Which of the following measures is recommended to help slow down the progression of cysts in patients with Polycystic Kidney Disease (PKD)?
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What is a common symptom of both Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
What is a common symptom of both Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
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Which of the following statements is true regarding genetic testing for Polycystic Kidney Disease (PKD)?
Which of the following statements is true regarding genetic testing for Polycystic Kidney Disease (PKD)?
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Study Notes
Polycystic Kidney Disease
- Characterized by progressive cystic dilation of renal tubules
- Two main types: autosomal dominant (ADPKD) and autosomal recessive (ARPKD)
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Most common type
- Usually asymptomatic until after age 30, though 10% present in childhood
- Common symptoms: hypertension, gross hematuria
- Cysts can form in other organs (liver, pancreas)
- Half of patients develop end-stage renal disease (ESRD) by age 60, but some require only supportive care
- Associated with increased risk of cerebral aneurysms, especially in those with a family history
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Less common, but more severe
- Presents in infants and young children, often with renal failure, liver fibrosis, and portal hypertension
- Can lead to death in early childhood if associated with in utero oligohydramnios
- Common presenting findings: hypertension, abdominal distension, flank masses
History/Physical Exam (ADPKD)
- Common presenting symptoms: hypertension, flank pain, gross hematuria
- Additional findings: hepatic cysts, cerebral aneurysms, diverticulosis, mitral valve prolapse
History/Physical Exam (ARPKD)
- Common presenting findings: hypertension, abdominal distension, flank masses
Diagnosis
- Often diagnosed through ultrasonography or CT scan
- Demonstrates multiple bilateral cysts throughout the kidney
- Enlargement of both kidneys, which are frequently palpable
- Genetic testing for ADPKD (PKD1 and PKD2 genes) and ARPKD (PKHD gene) is available but often not needed to reach a conclusive diagnosis
Treatment
- Aim to prevent complications and slow the progression to ESRD
- Crucial to manage urinary tract infections
- Control blood pressure (ACE inhibitors, ARBs) to prevent damage
- Dialysis and kidney transplant for ESRD
- High fluid intake can help prevent kidney stones, and may help slow cyst growth
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Description
Explore the key features of Polycystic Kidney Disease, including its two main types: Autosomal Dominant (ADPKD) and Autosomal Recessive (ARPKD). This quiz covers symptoms, disease progression, and associated complications such as hypertension and renal failure. Perfect for anyone studying nephrology or related health sciences.
