摘要
目的探讨同卵双生儿Alport综合征的临床与病理特点。方法 2010年4月收治的Alport综合征一家系资料,对患者及其家系成员行尿沉渣、24 h尿蛋白定量、肾功能以及眼晶状体和高频听力检查;2例患儿行肾活组织检查,予以肾组织病理光镜、免疫荧光、电镜检查。结果该家系中7名成员有镜下血尿,3名成员有少量蛋白尿,2例患儿病理检查均诊断为Alport综合征。结论早期筛查家系以及行肾脏病理检查有助于Alport综合征的诊断,同时也可以及早治疗,改善预后。
Objective To explore the clinical and pathological features of identical twins with Alport syndrome（AS）.Methods Identical twins with Alport syndrome were identified in our center in April 2010.All the family members were checked for urinary sediment,24-hour urinary protein,kidney function,eye lens,and hearing.The twins with AS underwent renal biopsy for pathologic examination,electron microscopy,and immunofluorescence examination.Results Seven family members had microscopic hematuria,three had microalbuminuria,and two had pathologically-confirmed AS.Conclusion Early family screening by kidney pathological examinations is helpful for the diagnosis of AS and may improve the prognosis.
出处
《中国全科医学》
CAS
CSCD
北大核心
2011年第11期1240-1242,共3页
Chinese General Practice
