北京大学学报(医学版) ›› 2014, Vol. 46 ›› Issue (2): 311-314.

• 论著 • 上一篇    下一篇

不同遗传型Alport综合征临床特点比较

王芳,丁洁△,张宏文,张琰琴,肖慧捷,姚勇,钟旭辉,俞礼霞   

  1. (北京大学第一医院儿科,北京 100034)
  • 出版日期:2014-04-18 发布日期:2014-04-18

Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome

WANG Fang, DING Jie△, ZHANG Hong-wen, ZHANG Yan-qin, XIAO Hui-jie, YAO Yong, ZHONG Xu-hui, YU Li-xia   

  1. (Department of Pediatrics, Peking University First Hospital, Beijing 100034, China)
  • Online:2014-04-18 Published:2014-04-18

摘要: 目的:回顾性总结分析不同遗传型Alport综合征临床特点,以期对该病有更全面正确的认识和理解。方法:将2005年1月至2009年12月在北京大学第一医院儿科就诊、经基因检测诊断为X连锁显性遗传型Alport综合征(X-linked dominant inheritance Alport syndrome,XLAS)的男性患者与同期诊断为常染色体隐性遗传型Alport综合征(autosomal recessive inheritance Alport syndrome,ARAS)患者的临床和病理特点进行比较。结果:XLAS男性患者54例,ARAS患者14例。与XLAS男性患者相比较,ARAS患者以发作性肉眼血尿多见(P<0.001),两组的家族史不同(P=0.016);两组在起病年龄构成、首发症状、蛋白尿程度、肾外表现以及肾小球基底膜病变方面差异均无统计学意义。结论: XLAS男性患者和ARAS患者临床表型存在一定差异,可为区分遗传方式提供线索。

关键词: 遗传性肾炎, 遗传方式, 表型

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. Conclusion:There are some features that distinguish between the patients with XLAS and the patients with ARAS.

Key words: Nephritis, hereditary, Inheritance patterns, Phenotype

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