一例罕见的尿失禁、共济失调-毛细血管扩张症合并转移性无性细胞瘤病例报告及文献复习
An unusual case of urinary incontinence, ataxia-telangiectasia, and metastatic dysgerminoma: case report and review of the literature.
作者信息
deVries C R, Kaplan G W
机构信息
Section of Urology, Medical College of Georgia, Augusta 30912-4050, USA.
出版信息
Urology. 1997 Sep;50(3):453-5. doi: 10.1016/S0090-4295(97)00244-6.
PMID:9301718
Abstract
Ataxia-telangiectasia (A-T) is a rare autosomal recessive disease notable for neurodegeneration, chromosomal instability, and a predisposition to cancer. It presents in childhood with a variable phenotype. We report the first case of an A-T related tumor presenting as urinary incontinence, and the first case of 2-year survival in an A-T patient with metastatic dysgerminoma.
摘要
共济失调毛细血管扩张症（A-T）是一种罕见的常染色体隐性疾病，以神经退行性变、染色体不稳定和易患癌症为特征。它在儿童期出现，具有可变的表型。我们报告了首例以尿失禁为表现的A-T相关肿瘤病例，以及首例患有转移性无性细胞瘤的A-T患者存活两年的病例。
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