Alport’s syndrome

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在2018年3月14日 (三) 09:57所做的修訂版本 (編輯) Guhjy (對話 | 貢獻) ←上一個		當前修訂版本 (2018年3月14日 (三) 09:57) (編輯) (撤銷) Guhjy (對話 | 貢獻)
第1行：		第1行：
	*''X-linked'' inheritance (85%)		*''X-linked'' inheritance (85%)
-	**Genetic defect in @@color(red):''α5 chain of type IV collagen''@@	+	**Genetic defect in α5 chain of type IV collagen
	**Chromosome Xq22–24		**Chromosome Xq22–24
	**Mild in female carriers		**Mild in female carriers

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當前修訂版本

• X-linked inheritance (85%)
  • Genetic defect in 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
  • 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