肾结肠瘤综合征1例报道

M. Makada, C. Dhandhalya, Mihir Joshi, R. Patel
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摘要

肾缺损综合征(Renal coloboma syndrome, RCS),又称肾乳头状瘤综合征,是一种以肾脏异常和视神经发育不良为特征的罕见综合征。我们提出一个病例的新生儿肾脏和眼睛的异常。结合已知的多囊性肾发育不良的诊断,新生儿被诊断为右眼结肠瘤,可能诊断为RCS。视网膜脱离和视力下降是眼部畸形的影响。高血压、蛋白尿和肾功能不全是肾脏发育不良的严重后果,经常导致终末期肾脏疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare case report: Renal coloboma syndrome
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is a rare syndrome characterized by renal abnormalities and optic nerve dysplasia. We present a case of a neonate with renal and eye abnormalities. Along with the known diagnosis of multicystic dysplastic kidney, the neonate was diagnosed with coloboma of the right eye, making a probable diagnosis of RCS. Retinal detachment and decreased visual acuity are implications of the ocular malformations. Hypertension, proteinuria, and renal insufficiency, which frequently lead to end-stage kidney disease, are serious consequences of renal dysplasia.
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