一名患有 WAGR 综合征的坦桑尼亚儿童:病例报告

Pius David Muzzazzi, Kandi Catherine Muze
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摘要

WAGR 综合征是一种罕见的遗传性疾病,其特征是 11p 13(PAX6 和 WT1 基因)的从头缺失,临床上与 Wilms 肿瘤、无睾症、泌尿生殖系统异常和智力迟钝有关。全世界每 50 万至 100 万人中就有 1 人患此病。在 WAGR 综合征患儿中,半数会发生 Wilms 肿瘤。我院收治了一名 3 岁男孩,主诉发育迟缓、腹胀。经全面检查发现,他患有无睾症、Wilms 肿瘤、睾丸下降不全和智力发育迟缓。无睾丸症与 Wilms 肿瘤有关,因此我们认为他的检查结果与 WAGR 综合征一致。通过基因检测,我们发现在 11p15.1p12 染色体上有 17840kb 的缺失,从而确诊为 WAGR 综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Tanzanian child with WAGR syndrome: A case report
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p 13 (PAX6 and WT1 genes), clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation. It affects 1 in 500,000 to 1 million people worldwide. Wilms tumor occurs in half of the children with WAGR syndrome. We admitted 3-year-old boy who presented in our institution with the complaints of delay in development milestones and abdomen distension. On thorough examination he was found to have aniridia, Wilms tumor, undescended testis and mental retardation. The observation that aniridia is associated with Wilms tumor led us to believe that the findings were consistent with WAGR syndrome. The diagnosis was confirmed by a genetic testing that revealed loss of 17840kb within the 11p15.1p12 chromosome, confirming the diagnosis of WAGR syndrome.
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