Nephrology: Hereditary Cystic Disease

Question 1

Etiology

Answer 1

Etiology:
Genetic
Pathogenesis is uncertain

Presentation:
- Flank pain, hematuria (microscopic or gross), infections, and calculi (more predisposed to infection and stones)

• most common cause of death is chronic recurrent stones and infections leading to ESRD
• live most common extra-renal site (40-60%)
• colonic diverticuli
• hypertension 50%
• mitral valve prolapse 25%
• intracranial aneurism 10-20%

no routine screening angiograms

Question 2

Diagnosis and treatment

Answer 2

ultrasound and CT scan

tx: nonspecific, manage complications

Question 3

Simple Renal Cyst

Answer 3

• single cyst
  -smooth
  -no debris
• don’t do anything
  60-70% of all renal masses

if walls are irregular or debris, then aspirate to exclude malignancy