Alport syndrome

被引：0

作者：

Karki, P. ^{[1
]}

Shrestha, J. K. ^{[2
]}

机构：

[1] Biratnagar Eye Hosp, Morang, Nepal

[2] BP Koirala Lions Ctr Ophthalm Studies, Inst Med, Kathmandu, Nepal

来源：

NEPALESE JOURNAL OF OPHTHALMOLOGY | 2009年 / 1卷 / 02期

关键词：

Alport syndrome; sensorineural hearing loss; micro-hematuria; oculo-renal syndrome;

D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Alport syndrome is an oculo-renal syndrome characterized by a triad of clinical findings consisting of hemorrhagic nephritis, sensorineural hearing loss and characteristic ocular findings. We report a young male patient who presented with painless diminution of vision associated with hearing loss. The importance of ophthalmic evaluation for suspecting the disease is highlighted.

引用

页码：139 / 140

页数：2

共 5 条

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Alport, AC .

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[2]

ATKIN CL, 1988, AM J HUM GENET, V42, P249

[3] IDENTIFICATION OF MUTATIONS IN THE COL4A5 COLLAGEN GENE IN ALPORT SYNDROME [J].

BARKER, DF ;

HOSTIKKA, SL ;

ZHOU, J ;

CHOW, LT ;

OLIPHANT, AR ;

GERKEN, SC ;

GREGORY, MC ;

SKOLNICK, MH ;

ATKIN, CL ;

TRYGGVASON, K .

SCIENCE, 1990, 248 (4960) :1224-1227

[4]

Sessa A, 2003, ALPORT SYNDROME ORPH

[5]

[No title captured]

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