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一名血液透析患者的穆尔-托雷综合征

Muir-Torre syndrome in a haemodialysis patient.

作者信息

Godfrey Evonne D, Coward Robert A, Gharpuray-Pandit Deepa, Lalloo Fiona, McKirdy Stuart, Woywodt Alexander

机构信息

Department of Renal Medicine , Lancashire Teaching Hospitals NHS Foundation Trust , Preston, Lancashire , UK.

Department of Pathology , Lancashire Teaching Hospitals NHS Foundation Trust , Preston, Lancashire , UK.

出版信息

Clin Kidney J. 2013 Aug;6(4):414-7. doi: 10.1093/ckj/sft068.

Abstract

Muir-Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes. Patients typically present with sebaceous neoplasms (sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) or with multiple keratoacanthomas. These patients also have an increased lifetime risk of visceral malignancies, typically affecting the colon, ovary, endometrium, genitourinary tract and small bowel. We describe a case of MTS in a haemodialysis patient and implications for transplant listing.

摘要

穆尔-托雷综合征(MTS)是一种罕见的具有可变外显率的遗传性癌症综合征。MTS遵循常染色体显性遗传模式,是林奇综合征(以前称为遗传性非息肉病性结直肠癌,HNPCC)的一种亚型。MTS由几种错配修复基因之一的突变引起。患者通常表现为皮脂腺肿瘤(皮脂腺腺瘤、皮脂腺上皮瘤或皮脂腺癌)或多发性角化棘皮瘤。这些患者发生内脏恶性肿瘤的终生风险也会增加,通常累及结肠、卵巢、子宫内膜、泌尿生殖道和小肠。我们描述了一例血液透析患者的MTS病例及其对移植名单的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c00/4898341/abac898a5400/sft06801.jpg

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