PDF(Pubmed)
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：
Gitelman综合征（GS）是一种罕见的，主要是常染色体隐性遗传性疾病，这是一种由远端肾单位的噻嗪类敏感片段中的氯化钠（NCCT）和镁转运蛋白编码基因突变引起的盐丧失性肾小管病。我们遇到了一名45岁的女性，她因低钾血症而全身无力8年，并在临床上被诊断为Gitelman综合征。她去了医院，抱怨左乳房硬肿块没有减轻。该肿瘤被诊断为人类表皮生长因子受体2（HER2）阳性乳腺癌。我们在此报告了第一例患有Gitelman综合征的乳腺癌患者，该患者发展为其他肿瘤，包括结肠息肉，肾上腺腺瘤,卵巢囊肿,和多发性子宫肌瘤，并提供相关文献的综述。
