Jones Alex, Gallegos Manuel, Díaz Ignacio, Reyes Magdalena, Zacharias Sergio
Fundación Oftalmológica de Los Andes, Santiago, Chile.
Hospital Dr. Sótero del Río, Santiago, Chile.
Rev Med Chil. 2019 Apr;147(4):522-526. doi: 10.4067/S0034-98872019000400522.
Alport syndrome is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. We report two men with Alport syndrome. Both had chronic kidney disease and consulted for long-term loss of visual acuity. One had auditory abnormalities. On the ophthalmological examination, both had anterior lenticonus and one had dot or fleck retinopathy. Those findings are described in up to 50% and 70% of men with X-linked Alport syndrome, respectively. Both patients had a family history of Alport syndrome or suggestive signs and symptoms.
阿尔波特综合征是一种遗传性进行性肾小球疾病，常伴有感音神经性听力损失和眼部异常。我们报告了两名患有阿尔波特综合征的男性。两人均患有慢性肾病，并因长期视力丧失前来咨询。其中一人有听觉异常。眼科检查发现，两人均有前圆锥形晶状体，一人有点状或斑点状视网膜病变。这些发现分别在高达50%和70%的X连锁阿尔波特综合征男性患者中出现。两名患者均有阿尔波特综合征家族史或提示性体征和症状。
