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一例患有吉特曼综合征的晚期乳腺癌病例。

A case of advanced breast cancer with Gitelman syndrome.

作者信息

Tanaka Yuko, Muramatsu Miyuki, Miyauchi Yoshihiro, Suzuki Yoshio, Morohashi Tamaki, Nozu Kandai

机构信息

Breast Center, Dokkyo Medical University Hospital, 880 Kitakobayashi, Mibu, Shimotsuga District, Tochigi, 321-0293 Japan.

Department of Cancer Genome, Dokkyo Medical University Hospital, 880 Kitakobayashi, Mibu, Shimotsuga District, Tochigi, 321-0293 Japan.

出版信息

Int Cancer Conf J. 2023 Jan 4;12(2):137-142. doi: 10.1007/s13691-022-00593-4. eCollection 2023 Apr.

Abstract

Gitelman syndrome (GS) is a rare, mostly autosomal recessive disease this is a salt-losing tubulopathy caused by mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide-sensitive segments of the distal nephron. We encountered a 45-year-old female who has suffered from whole-body weakness because of hypokalemia for 8 years and diagnosed with Gitelman syndrome clinically. She visited the hospital with a complaint of an unrelieved hard mass of the left breast. The tumor was diagnosed as human epidermal growth factor receptor 2 (HER2)-positive breast cancer. We herein report this first case of a breast cancer patient with Gitelman syndrome who developed other neoplasms including colon polyp, adrenal adenoma, an ovarian cyst, and multiple uterine fibroids and provide a review of the pertinent literature.

摘要

吉特林综合征(GS)是一种罕见的、大多为常染色体隐性疾病,是一种失盐性肾小管病,由远端肾单位噻嗪类敏感节段中编码氯化钠(NCCT)和镁转运体的基因突变引起。我们遇到一名45岁女性,因低钾血症全身无力8年,临床诊断为吉特林综合征。她因左乳房硬块未缓解前来就诊。肿瘤被诊断为人类表皮生长因子受体2(HER2)阳性乳腺癌。我们在此报告首例患有吉特林综合征且并发其他肿瘤(包括结肠息肉、肾上腺腺瘤、卵巢囊肿和多发性子宫肌瘤)的乳腺癌患者,并对相关文献进行综述。

相似文献

1
A case of advanced breast cancer with Gitelman syndrome.一例患有吉特曼综合征的晚期乳腺癌病例。
Int Cancer Conf J. 2023 Jan 4;12(2):137-142. doi: 10.1007/s13691-022-00593-4. eCollection 2023 Apr.
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Gitelman syndrome combined with complete growth hormone deficiency.吉特曼综合征合并完全性生长激素缺乏症。
Ann Pediatr Endocrinol Metab. 2013 Mar;18(1):36-9. doi: 10.6065/apem.2013.18.1.36. Epub 2013 Mar 31.
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