questions 7

Adult Polycystic Kidney

Topic updated on 07/28/17 9:21pm

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 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 results 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
    • 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
  • 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


  RATE CONTENT
4.0
AVERAGE 4.0 of 2 RATINGS

Qbank (6 Questions)

TAG
(M3.RL.22) A 40-year-old woman presents to your office with a history of "bad kidneys in the family." She states that she has recently moved to the area and that she would like to establish you as her primary care physician. She brings a previous imaging study with her that she had completed prior to moving to town, which is demonstrated in Figure F. What is the most common complication of this pathology found outside of the kidneys? Topic Review Topic
FIGURES: A   B   C   D   E   F

1. Figure A
2. Figure B
3. Figure C
4. Figure D
5. Figure E

PREFERRED RESPONSE ▶
TAG
(M3.RL.24) A 42-year-old man presents to his physician with dark urine and intermittent flank pain. He has no significant past medical history. Vital signs are as follows: Temp 37C, HR 78, BP 180/105, RR 13, and O2 saturation 99% on room air. Physical examination is significant for bilateral palpable flank masses. Urinary analysis is positive for hemoglobin. 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? Topic Review Topic

1. Abdominal CT
2. Renal ultrasound
3. Renal biopsy
4. Voiding cystourethrogram
5. Genetic sequencing

PREFERRED RESPONSE ▶
TAG
(M2.RL.45) A 45-year-old man presents to general medical clinic with flank pain and dark urine. He has no significant past medical history. Vital signs are temperature 37 degrees Celsius, heart rate 75 beats per minute, blood pressure 185/105, respiratory rate 12, and oxygen saturation 99% on room air. Physical examination is significant for bilateral palpable flank masses. Urinary analysis is positive for heme. MRI shows the following in Figure A. Given this patient's underlying disease, he is at greater risk for which of the following neurologic complications? Topic Review Topic
FIGURES: A   B   C   D   E   F

1. Figure B
2. Figure C
3. Figure D
4. Figure E
5. Figure F

PREFERRED RESPONSE ▶
TAG
(M2.RL.56) A 45-year-old man with a history of hypertension presents to his primary doctor complaining of bloody urine. He is worried that he may have the same disease as his mother. His vitals are as follows: T 97.5 HR 85 BP 145/82 RR 12 SpO2 100% on room air. His physical exam is unremarkable. A urine analysis is notable for 20-30 RBCs. His renal ultrasound is shown in Figure A. What is the probability that his daughter will also have this disease if his wife is unaffected? Topic Review Topic
FIGURES: A          

1. 0%
2. 25%
3. 50%
4. 75%
5. 100%

PREFERRED RESPONSE ▶
TAG
(M2.RL.75) A 47-year-old male with a history of migraines presents to the emergency department with 10/10 pain caused by a severe headache. He states the headache started suddenly while he was mowing the lawn and didn't appear to have any precipitating factors. A CT scan is immediately obtained which demonstrates the findings shown in Figure F, the patient is admitted to the hospital, and the appropriate management is initiated. The inpatient team pursues a workup to identify the underlying cause of his presentation and obtains a renal ultrasound which shows multiple bilateral cysts. Which figure correctly represents the mode of inheritance of this patient's underlying condition? Topic Review Topic
FIGURES: A   B   C   D   E   F

1. Figure A
2. Figure B
3. Figure C
4. Figure D
5. Figure E

PREFERRED RESPONSE ▶
TAG
(M2.RL.172) A 32-year-old female presents to general medical clinic with a chief complaint of blood in her urine. She has no pain urinating and denies any fevers. Vital signs include Temp 37 C, HR 70, BP 185/95, RR 12, and O2 sat 99% on room air. Her urinary analysis is positive for heme but negative for white cells. Serum creatinine is 3.5. Later in the patient's course, she is treated with a transplant. A representative image of her organ is shown in Figure A. Which of the following is true regarding this illness? Topic Review Topic
FIGURES: A          

1. This disease is associated with gastroesophageal reflux disease
2. In the autosomal dominant form of the disease, patients most often present in childhood
3. In the autosomal recessive form of the disease, patients most often present in adulthood
4. Cysts in the spleen often accompany this disease
5. This disease is often accompanied by a valvular abnormality characterized by a mid systolic click

PREFERRED RESPONSE ▶
Sorry, this question is only available for Study Plan members.
Access to 600+ Questions not available in Free Qbank



Evidence & References Show References




Topic Comments

Subscribe status: