Alport’s syndrome - 修訂歷史

Guhjy在2018年3月14日 (三) 01:57

2018-03-14T01:57:38Z

←上一修訂		在2018年3月14日 (三) 01:57所做的修訂版本
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

Guhjy在2018年3月14日 (三) 01:57

2018-03-14T01:57:10Z

←上一修訂		在2018年3月14日 (三) 01:57所做的修訂版本
第18行：		第18行：
	***EM: Thin GBM → multilamellations surrounding lucent areas that often contain granules of varying density (split basement membrane)		***EM: Thin GBM → multilamellations surrounding lucent areas that often contain granules of varying density (split basement membrane)
	*Renal transplantation		*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	+	**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

Guhjy: 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...

2018-03-14T01:56:26Z

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...

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 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

Alport’s syndrome - 修訂歷史

Guhjy在2018年3月14日 (三) 01:57

Guhjy在2018年3月14日 (三) 01:57

Guhjy: 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...

Guhjy: 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...