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Genes 2017, 8(5), 139; doi:10.3390/genes8050139

Rectal Cancer in a Patient with Bartter Syndrome: A Case Report

1
Department of Gastroenterological Surgery, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan
2
Department of Surgery, Osaka International Cancer Institute, 3-1, Otemae, Tyuou-ku, Osaka 541-8567, Japan
3
Department of Cardiology, Osaka International Cancer Institute, 3-1, Otemae, Tyuou-ku, Osaka 541-8567, Japan
4
Department of Molecular and Medical Genetics, Research Institute, Osaka International Cancer Institute, 3-1, Otemae, Tyuou-ku, Osaka 541-8567, Japan
*
Author to whom correspondence should be addressed.
Academic Editor: Nora Nock
Received: 22 February 2017 / Revised: 30 March 2017 / Accepted: 3 May 2017 / Published: 12 May 2017
(This article belongs to the Special Issue Cancer Genetics)
View Full-Text   |   Download PDF [2364 KB, uploaded 12 May 2017]   |  

Abstract

A woman with rectal cancer was scheduled for surgery. However, she also had hypokalemia, hyperreninemia, and hyperaldosteronism in the absence of any known predisposing factors or endocrine tumors. She was given intravenous potassium, and her blood abnormalities stabilized after tumor resection. Genetic analysis revealed mutations in several genes associated with Bartter syndrome (BS) and Gitelman syndrome, including SLC12A1, CLCNKB, CASR, SLC26A3, and SLC12A3. Prostaglandin E2 (PGE2) plays an important role in BS and worsens electrolyte abnormalities. The PGE2 level is reportedly increased in colorectal cancer, and in the present case, immunohistochemical examination revealed an increased PGE2 level in the tumor. We concluded that the tumor-related PGE2 elevation had worsened the patient’s BS, which became more manageable after tumor resection. View Full-Text
Keywords: Bartter syndrome; colorectal cancer; prostaglandin E2; whole-exome sequencing; next-generation sequencing Bartter syndrome; colorectal cancer; prostaglandin E2; whole-exome sequencing; next-generation sequencing
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MDPI and ACS Style

Fujino, S.; Miyoshi, N.; Ohue, M.; Mukai, M.; Kukita, Y.; Hata, T.; Matsuda, C.; Mizushima, T.; Doki, Y.; Mori, M. Rectal Cancer in a Patient with Bartter Syndrome: A Case Report. Genes 2017, 8, 139.

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