Tanaka Yuko, Muramatsu Miyuki, Miyauchi Yoshihiro, Suzuki Yoshio, Morohashi Tamaki, Nozu Kandai
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.
Int Cancer Conf J. 2023 Jan 4;12(2):137-142. doi: 10.1007/s13691-022-00593-4. eCollection 2023 Apr.
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.
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。