阿尔波特综合征的眼部表现。
Ocular manifestations of Alport syndrome.
作者信息
Xu Jian-Min, Zhang Shi-Sheng, Zhang Qiong, Zhou Ying-Ming, Zhu Cai-Hong, Ge Jian, Wang Ling
机构信息
Department of Ophthalmology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.
出版信息
Int J Ophthalmol. 2010;3(2):149-51. doi: 10.3980/j.issn.2222-3959.2010.02.13. Epub 2010 Jun 18.
AIM
To analyze the clinical manifestation of Alport syndrome, especially the ocular features.
METHODS
The physical, ophthalmologic and audiologic examination results of thirty-two patients with Alport syndrome were analyzed retrospectively.
RESULTS
Thirty (93.7%) patients had some family history. All patients had renal disease: eighteen (56.3%) patients with chronic renal failure, four (12.5%) patients with renal insufficiency, and the other ten (31.3%) patients with hematuria. Twenty (62.5%) patients had sensorineural deafness. Thirteen (40.6%) patients had ocular deformity, five (15.7%) patients had typical ocular changes: three patients with anterior lenticonus, and two patients with macular flecks.
CONCLUSION
Ocular anomalies are not requisite for the diagnosis of Alport syndrome. But its typical ocular features should be recognized by the ophthalmologists which supports the diagnosis.
目的
分析Alport综合征的临床表现，尤其是眼部特征。
方法
回顾性分析32例Alport综合征患者的体格检查、眼科检查和听力检查结果。
结果
30例（93.7%）患者有家族病史。所有患者均有肾脏疾病：18例（56.3%）慢性肾衰竭患者，4例（12.5%）肾功能不全患者，另外10例（31.3%）血尿患者。20例（62.5%）患者有感觉神经性耳聋。13例（40.6%）患者有眼部畸形，5例（15.7%）患者有典型眼部改变：3例前锥形晶状体患者，2例黄斑斑点患者。
结论
眼部异常并非诊断Alport综合征的必要条件。但其典型眼部特征应由眼科医生识别，以支持诊断。
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