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Revista médica de Chile

Print version ISSN 0034-9887

Abstract

JONES, Alex et al. Alport syndrome. Report of two cases. Rev. méd. Chile [online]. 2019, vol.147, n.4, pp.522-526. ISSN 0034-9887.  http://dx.doi.org/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.

Keywords : Lens Diseases; Nephritis, Hereditary.

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