CAJ | 학술논문

目的:总结Alport综合征的临床表现,尤其是眼部特征.方法:回顾性分析32例被确诊为Alport综合征患者的内科、耳鼻喉科和眼科检查结果. 结果:患者30例(93.7%)有疾病家族史.所有患者均有不同程度的肾脏病变:18例(56.3%)有肾功能衰竭,4例(12.5%)肾功能不全,10例(31.3%)血尿.患者20例(62.5%)有感音神经性耳聋.患者13例(40.6%)有眼部异常表现,其中5例(15.6%)为典型性改变:前圆锥晶体3例,黄斑周围斑点2例.结论:眼部异常不是Alport综合征诊断的必需条件,但因其典型的眼科表现应当引起眼科医师的注意,以便早期诊断治疗.
목적:총결Alport종합정적림상표현,우기시안부특정.방법:회고성분석32례피학진위Alport종합정환자적내과、이비후과화안과검사결과. 결과:환자30례(93.7%)유질병가족사.소유환자균유불동정도적신장병변:18례(56.3%)유신공능쇠갈,4례(12.5%)신공능불전,10례(31.3%)혈뇨.환자20례(62.5%)유감음신경성이롱.환자13례(40.6%)유안부이상표현,기중5례(15.6%)위전형성개변:전원추정체3례,황반주위반점2례.결론:안부이상불시Alport종합정진단적필수조건,단인기전형적안과표현응당인기안과의사적주의,이편조기진단치료.
·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(15.6%) 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.