Nephrology Book

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Autosomal Dominant Polycystic Kidney DiseaseAka: Polycystic Kidney Disease, ADPKD

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  1. Epidemiology
    1. Prevalence: 500,000 patients in United States
    2. Symptom onset most often after age 30 years
  2. Pathophysiology
    1. Type 1 (86% of cases, 95% of cases in Caucasians)
      1. ADPKD1 gene on short arm of chromosome 16
      2. End-stage renal disease average age of onset: 69
      3. Children of affected patients have 50% risk
    2. Type 2 (14% of cases)
      1. ADPKD2 gene on chromosome 4
      2. End-stage renal disease average age of onset: 57
  3. Symptoms
    1. Flank or Abdominal Pain (60%)
  4. Signs
    1. Hypertension
  5. Labs
    1. Urinalysis
      1. Hematuria
  6. Radiology
    1. Renal Ultrasound
    2. Abdominal CT
  7. Diagnosis
    1. Adults
      1. Three or more renal cysts
      2. Bilateral renal parenchymal involvement
    2. Child
      1. Two renal cysts
      2. Involvement may be unilateral or bilateral
  8. Complications
    1. Renal Failure (45%)
      1. Accounts for 5-10% of End Stage Renal Disease (ESRD)
    2. Hypertension
      1. Children: 30%
      2. Adults: 60%
      3. End Stage Renal Disease: 80%
    3. Hematuria (associated with renal cyst rupture)
    4. Recurrent Urinary Tract Infection
    5. Nephrolithiasis (20%)
    6. Renal Cell Carcinoma
    7. Cerebral Aneurysm (5-10%)
    8. Adult polycystic liver disease - liver cysts (34-78%)
    9. Mitral Valve Prolapse (26%)
    10. Colonic diverticulum with risk of perforation
  9. Risk Factors for End Stage Renal Disease
    1. ADPKD1 gene
    2. Early onset at young age
    3. Male
    4. Black race
    5. Sickle Cell Trait
    6. Hypertension
    7. Left Ventricular Hypertrophy
    8. Gross Hematuria
    9. Proteinuria
    10. Large renal volume
    11. Hepatic cysts
    12. Urinary Tract Infections in males
    13. Three or more pregnancies
  10. Management
    1. Hypertension control (Goal Blood Pressure < 130/85)
      1. ACE Inhibitor
      2. Diuretic (caution when used with ACE Inhibitor)
      3. Calcium Channel Blocker
    2. Hematuria: Most resolve spontaneously
      1. Maximize hydration
      2. Correct coagulopathy
      3. Bed rest
    3. Proteinuria (30%)
    4. Flank and Abdominal Pain with cyst expansion
      1. Analgesics
      2. Rest
      3. Percutaneous cyst drainage and alcohol sclerosis
      4. Open cyst reduction surgery
    5. Parenchymal cyst infection
      1. Trimethoprim Sulfamethoxazole
      2. Chloramphenicol
      3. Ciprofloxacin
    6. Renal Failure
      1. See Chronic Renal Failure
  11. References
    1. Beebe (1996) Am Fam Physician 53(3):925-31
    2. Gibson (2002) Practitioner 246:450

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