Alport’s syndrome

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(新頁面: *''X-linked'' inheritance (85%) **Genetic defect in @@color(red):''α5 chain of type IV collagen''@@ **Chromosome Xq22–24 **Mild in female carriers *AR (15%): α3(IV) or &alph...)
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在2018年3月14日 (三) 09:56所做的修訂版本

  • X-linked inheritance (85%)
    • Genetic defect in @@color(red):α5 chain of type IV collagen@@
    • Chromosome Xq22–24
    • Mild in female carriers
  • AR (15%): α3(IV) or α4(IV) collagen (chromosome 2q35–37)
  • AD (rare): α3(IV) or α4(IV) chains
    • AD & AR: Male & females have equal severity
  • Symptoms and signs
    • Hematuria
    • mild proteinuria (<1–2 g/24 h)
      • Sometimes nephrotic syndrome
    • ESRD
    • Sensorineural hearing loss (60%)
      • Early deafness suggest poor prognosis
    • Bilateral anterior lenticonus, retinal flecks, recurrent corneal erosion
    • Rare: mental retardation, leiomyomatosis, platelet defects
    • Pathology
      • EM: Thin GBM → multilamellations surrounding lucent areas that often contain granules of varying density (split basement membrane)
  • Renal transplantation
    • @@color(red):~Anti-GBM antibodies directed toward the collagen epitopes absent in their native kidneys@@, but overt Goodpasture's syndrome is uncommon and graft survival is good
取自"http://wiki.kmu.edu.tw/index.php/Alport%E2%80%99s_syndrome"