Alport 综合征1 例报道及文献复习

目的:探讨Alport综合征的临床表现,病理学特征及研究进展。方法:分析1例此病患者的临床资料。结果:本例患者临床表现为慢性视力下降。尿常规检查提示蛋白尿,血尿。肾肾穿刺活检的光镜、电镜检查均支持诊断。结论:Alport综合征患者中眼部异常的表现有独特性;了解眼部病变特征并结合全身病史,病理学检查有助于疾病的诊断和随诊。

Alport Syndrome in a Case Report and Discussion

Objective: To study the clinical manifestations,pathology features and progress of Alport syndrome(AS).Methods: All clinical data of 1 patient with AS were studied.Results: The patient presented with chronic Visually impaired.Urinalysis showed that proteinuria,hematuriathe.Renal biopsy showed the typical splitting of glomerular basement membrane for the diagnosis.Conclusions: Ocular abnormalities are not rare in adult patients of Alport syndrome.Knowing about ocular features,systenic disease history and pathology features will help doctors to make the correct diagnosis and follow up.