- Inheritance in Autosomal Dominant pattern
- A child has a 50% chance of inheriting ADPKD from an affected parent
- Symptoms
- Symptom onset is delayed until patients are in their 30-40s
- Flank or Abdominal Pain (60%) causes
- Renal Cyst rupture
- Enlarged Kidney compression of regional structures
- Nephrolithiasis
- Urinary Tract Infection
- Gross Hematuria
- Urinary Tract Infection symptoms
- Signs
- Labs
- Renal Function test monitoring
- Urinalysis
- Urinary Tract Infection
- Hematuria
- Proteinuria
- Genetic screening indications
- Not routinely indicated
- Young, at risk asymptomatic patients with normal Ultrasound screening
- Large Kidneys with Renal Cysts and no known Family History of ADPKD
- Kidney Transplant potential donor who is at risk of ADPKD
- Imaging
- Renal Ultrasound (effective, lower cost, no radiation)
- Abdominal CT
- Abdominal MRI
- Complications
- Renal Failure (at least 45% of cases)
- Accounts for 5-10% of End Stage Renal Disease (ESRD)
- By age 70 years old, 80% have end-stage renal disease or have died of other cause
- Hypertension
- Children: 30%
- Adults: 60%
- End Stage Renal Disease: 80%
- Extra-Renal Cysts
- Left Ventricular Hypertrophy
- Mitral Valve Prolapse (26%)
- Aortic Insufficiency (due to aortic root dilitation)
- Gross Hematuria (associated with Renal Cyst rupture)
- Recurrent Urinary Tract Infection
- Nephrolithiasis (20%)
- Renal Cell Carcinoma
- Cerebral Aneurysm (5-10%)
- Management
- No specific interventions prevent cyst development
- All management strategies are to evaluate and treat secondary complications and forestall end-stage renal disease
- Hypertension control (Goal Blood Pressure < 140/90)
- ACE Inhibitor
- Angiotensin Receptor Blocker may be used as an alternative if unable to use an ACE Inhibitor
- Diuretic
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