title: [Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome].
abstract: OBJECTIVE
  To further improve the recognition of Alport syndrome.
  
  
  METHODS
  The patients with COL4A3, COL4A4 or COL4A5 mutations, admitted to Department of Pediatric, Peking University First Hospital from 2005 to 2009, were retrospectively studied. Their clinical and ultrastructural characteristics were compared between the male patients with X-linked dominant inheritance Alport syndrome (XLAS) and the patients with autosomal recessive inheritance Alport syndrome (ARAS).
  
  
  RESULTS
  There were 54 male patients with XLAS and 14 patients with ARAS. Compared with the male patients with XLAS, episodic gross hematuria was prominent (P<0.001) in patients with ARAS. Family history was also different between the two groups (P=0.016). However, there was no significant difference in the age of identification of symptoms, initial manifestations, levels of proteinuria, extrarenal signs and ultra-structural glomerular basement membrane changes between the two groups.
  
  
  CONCLUSIONS
  There are some features that distinguish between the patients with XLAS and the patients with ARAS.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Ding
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Hong-wen
authors.initials: HW
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yan-qin
authors.initials: YQ
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Hui-jie
authors.initials: HJ
authors.lastname: Xiao
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Yao
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Xu-hui
authors.initials: XH
authors.lastname: Zhong
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Li-xia
authors.initials: LX
authors.lastname: Yu
mesh_terms: D002648:Child; D050533:Glomerular Basement Membrane / Q000648:ultrastructure; D006417:Hematuria; D006801:Humans; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary; D010641:Phenotype