Updated: 10/4/2019

Renal Cyst Disorders

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Snapshot
  • A 26-year-old man presents to his primary care physician with abdominal and lower back pain. He reports to also seeing blood in his urine. Medical history is non-contributory. Family history is significant for his father requiring hemodialysis at a young age. Vitals signs are significant for a blood pressure of 162/112 mmHg. A renal ultrasound is performed and shown. (Adult polycystic kidney disease)
Adult Polycystic Kidney Disease (ADPCKD)
  • 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
  • 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
      • recurrent urinary tract infections
      • hypertension
Juvenile Polycystic Kidney Disease (ARPCKD)
  • Clinical definition
    • a congenital fibrocystic disorder that results in renal and hepatic manifestations
  • Epidemiology
    • incidence
      • 1 in 20,000 live births
  • Pathogenesis
    • PKHD1 gene mutation leads to abnormal production of fibrocystin and polyductin which results in defects of the
      • renal tubular structures
        • dilatation and elongation of collecting ducts
      • bile duct structures
        • cystic dilatation of intra- and extra-hepatic bile ducts
  • Genetics
    • inheritance pattern
      • autosomal recessive
    • mutation
      • PKHD1 gene on chromosome 6 
  • Associated conditions
    • Potter sequence
  • Presentation
    • symptoms/physical exam
      • bilateral abdominal mass in infants and children
      • hepatomegaly in infants and children
      • hypertension
Medullary Cystic Disease
  • Clinical definition
    • an autosomal dominant inherited disorder that results in tubulointerstitial fibrosis of the kidney
    • medullary cystic disease is characterized by
      • autosomal dominant inheritance pattern
      • progressive and slow impairment in renal function that ultimately results in end-stage renal disease
      • no or minimal proteinuria with a bland urine sediment
      • medullary cysts on renal ultrasound
        • in most cases medullary cysts are not present
        • can see shrunken kidneys on ultrasound

 

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(M1.RL.13.72) A 35-year-old male with a history of hypertension presents with hematuria and abdominal discomfort. Ultrasound and CT scan reveal large, bilateral cysts in all regions of the kidney. The patient’s disease is most commonly associated with: Tested Concept

QID: 101026
1

Aortic stenosis

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2

Berger’s disease

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3

Diabetes mellitus

0%

(0/28)

4

Berry aneurysm

100%

(28/28)

5

Henoch-Schonlein purpura

0%

(0/28)

M 2 E

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(M1.RL.13.26) A female infant is born with a mutation in PKD1 on chromosome 16. An abdominal ultrasound performed shortly after birth would most likely reveal which of the following? Tested Concept

QID: 100980
1

Bilateral kidney enlargement

24%

(6/25)

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Microscopic cysts

20%

(5/25)

3

Horseshoe kidney

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(0/25)

4

Adrenal atrophy

8%

(2/25)

5

Normal kidneys

48%

(12/25)

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Evidence (5)
Topic COMMENTS (6)
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