肾病型胱氨酸病伴眼部受累-坎皮纳斯和巴西两例报告

Messias Pn, Sobrinho Mva, Hoehr Gc, Selegatto Lt
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引用次数: 0

摘要

胱氨酸病是一种常染色体隐性遗传疾病,导致组织中氨基酸酸晶体积聚。在眼睛中,晶体在组织层内积聚,造成畏光,最终导致失明,这需要间变性。在本研究中,我们倾向于代表2例报告的肾病胱氨酸病和眼部表现的患者,从识别到医疗和预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Nephropathic Cystinosis with Ocular Involvement - Two Case Reports at Campinas and Brazil
Cystinosis is an autosomal recessively inherited disorder which leads to an aminoalkanoic acid crystals accumulation in tissues. In eyes, crystals accumulate within the tissue layer inflicting photophobia and eventually sightlessness, requiring anaplastic. During this research, we have a tendency to represent 2 cases, which were reported in patients with identification of Nephropathic Cystinosis and ocular manifestations, from identification through medical care and prognosis.
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