Updated: 6/10/2021

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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