Updated: 12/15/2019

Adult Polycystic Kidney

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Snapshot
  • A 32-year-old man presents with hematuria and abdominal pain. He denies any recent trauma or this ever happening before. Family history is significant for his mother dying from a "brain bleed" at age 42. Vital signs are significant for a blood pressure of 158/105 mmHg. On physical exam, there a late systolic crescendo murmur with a midsystolic click and tenderness upon palpation of the abdominal flanks. An ultrasound of the abdomen shows bilateral anechoic cysts with posterior enhancement.
Introduction
  • Clinical definition
    • an inherited disorder that results in the expansion of multiple renal cysts which ultimately leads to end-stage renal disease
  • Epidemiology
    • incidence
      • the most common inherited cause of kidney disease
    • demographics
      • ≥ 30 years of age
    • risk factors
      • family history
  • Etiology
    • secondary to mutations in PKD1 (on chromosome 16, more common; ~85%) or PKD2 (on chromosome 4) 
  • Pathogenesis
    • PKD1 or PKD2 mutations result in abnormal cell signaling that results in cystogenesis
      • expansion of cysts results in progressive loss of nephrons
  • Genetics
    • inheritance pattern
      • autosomal dominant
    • mutations
      • PKD1 (on chromosome 16) or PKD2 (on chromosome 4)
        • PKD1 encodes polycystin-1
        • PKD2 encodes polycystin-2
  • Associated conditions
    • cyst development in other organs such as
      • liver (most common extra-renal cyst type)
      • pancreas
      • seminal vesicle
      • note that kidneys appear normal at birth 
    • vascular abnormalities such as
      • intracranial aneurysm 
      • coronary artery aneurysm
    • cardiovascular abnormalities
      • mitral valve prolapse  
      • left ventricular hypertrophy
    • diverticulosis
  • Prognosis
    • with age the number and size of the cyst increases
Presentation
  • Symptoms
    • abdominal or flank pain
    • low back pain
    • hematuria
    • urinary tract infection
  • Physical exam 
    • hypertension
Imaging
  • Ultrasound
    • indication
      • in patients with findings suggestive of autosomal dominant polycystic kidney disease
      • to test family members of patients 
    • findings
      • renal cysts  
        • anechoic structures with posterior acoustic enhancement
Studies
  • Genetic testing
    • routine use is not recommended
  • Diagnostic criteria
    • diagnosis is made by imaging (e.g., renal ultrasound) along with a consistent clinical presentation (e.g., hypertension in a young adult)
Differential
  • Autosomal recessive polycystic kidney disease
    • risk factor for Potter sequence 
  • von Hippel-Lindau syndrome
  • Medullary cystic disease
  • Simple renal cyst
Treatment
  • Medical
    • ACE-inhibitor or angiotensin receptor blocker (ARB)
      • initial treatment of hypertension in patients with ADPKD
      • other medications are used to manage ADPKD complications
Complications
  • Renal complications
    • hematuria
    • nephrolithiasis
    • urinary tract infection
  • Extra-renal complications
    • hypertension (most common)
    • intracranial aneurysm
 

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(M3.RL.15.24) A 42-year-old man presents to his physician with dark urine and intermittent flank pain. He has no significant past medical history and generally is healthy. His temperature is 97.5°F (36.4°C), blood pressure is 182/112 mmHg, pulse is 85/min, respirations are 15/min, and oxygen saturation is 98% on room air. Physical examination is significant for bilateral palpable flank masses and discomfort to percussion of the costovertebral angle. Urinalysis is positive for red blood cells without any bacteria or nitrites. Which of the following diagnostic modalities should be used to screen members of this patient's family to assess if they are affected by the same condition? Tested Concept

QID: 103514
1

Abdominal CT

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2

Genetic sequencing

80%

(4/5)

3

Renal biopsy

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4

Renal ultrasound

20%

(1/5)

5

Voiding cystourethrogram

0%

(0/5)

M 10 E

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(M2.RL.15.62) A 39-year-old male is rushed to the emergency department after he developed a sudden-onset severe headache with ensuing nausea, vomiting, vision changes, and loss of consciousness. Past medical history is unattainable. He reports that the headache is worse than any he has experienced before. Noncontrast CT of the head is significant for an intracranial hemorrhage. Follow-up cerebral angiography is performed and shows a ruptured anterior communicating artery aneurysm. Which of the following has the strongest association with this patient's current presentation? Tested Concept

QID: 104604
1

History of multiple hemangioblastomas of the retina and spine as well as pheochromocytoma

8%

(7/91)

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Brain MRI showing a butterfly glioma with a central necrotic core

5%

(5/91)

3

Abdominal CT suggestive of renal cell carcinoma

2%

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Kidney ultrasound showing numerous bilateral renal cysts

82%

(75/91)

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History of renal transplantation at 8 years of age

1%

(1/91)

M 6 D

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(M2.RL.14.172) A 32-year-old woman presents to her primary care doctor with a chief complaint of dark urine. She has noticed that her urine has appeared darker over the past several weeks. She otherwise states she is healthy, does yoga regularly, and is a vegetarian. Her temperature is 98.1°F (36.7°C), blood pressure is 172/103 mmHg, pulse is 83/min, respirations are 15/min, and oxygen saturation is 98% on room air. Physical exam is notable for bilateral nontender flank masses. Laboratory studies are ordered as seen below.

Serum:
Na+: 139 mEq/L
Cl-: 100 mEq/L
K+: 5.5 mEq/L
HCO3-: 25 mEq/L
BUN: 47 mg/dL
Glucose: 91 mg/dL
Creatinine: 3.1 mg/dL

Urinalysis:
Color: Dark
Red blood cells: Positive
Bacteria: Absent
Leukocytes: Absent
Nitrites: Negative

A computed tomography (CT) scan is performed as seen in Figure A. Which of the following could be found in this patient?
Tested Concept

QID: 104178
FIGURES:
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Ventricular septal defect

3%

(1/34)

2

Fixed splitting of S2

12%

(4/34)

3

Hepatic vein thrombosis

6%

(2/34)

4

Mid-systolic click

21%

(7/34)

5

Preceding dermatologic infection

53%

(18/34)

M 8 E

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Evidence (7)
Topic COMMENTS (7)
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