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Updated: Jun 10 2021

Renal Cyst Disorders

  • 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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