Alport syndrome. Report of two cases

被引:0
|
作者
Jones, Alex [1 ]
Gallegos, Manuel [3 ]
Diaz, Ignacio [2 ]
Reyes, Magdalena [4 ]
Zacharias, Sergio [1 ]
机构
[1] Fdn Oftalmol Los Andes, Santiago, Chile
[2] Hosp Dr Sotero del Rio, Santiago, Chile
[3] Univ Los Andes, Interno Med, Santiago, Chile
[4] Pontificia Univ Catolica Chile, Interna Med, Santiago, Chile
关键词
Lens Diseases; Nephritis; Hereditary; OCULAR MANIFESTATIONS; MUTATIONS; DISORDER;
D O I
10.4067/S0034-98872019000400522
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:522 / 526
页数:5
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