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

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.

SUBMITTER: Fujino S

PROVIDER: S-EPMC5448013 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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

Fujino Shiki S Miyoshi Norikatsu N Ohue Masayuki M Mukai Mikio M Kukita Yoji Y Hata Taishi T Matsuda Chu C Mizushima Tsunekazu T Doki Yuichiro Y Mori Masaki M

Genes 20170512 5

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. ...[more]

PMID: 28498361

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Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report.

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| S-EPMC7318402 | biostudies-literature

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| S-EPMC10098006 | biostudies-literature

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| S-EPMC6693093 | biostudies-literature

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| S-EPMC10149701 | biostudies-literature

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| S-EPMC10566277 | biostudies-literature

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| S-EPMC10537044 | biostudies-literature

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First case report of Nager syndrome patient from Georgia.

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| S-EPMC9751155 | biostudies-literature

Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.

Project description:BACKGROUND Bartter syndrome is a rare genetic disease characterized by hypokalemia, metabolic alkalosis, and hyperreninemic hyperaldosteronism. Five different subtypes have been described based on the genetic defect identified. Bartter syndrome type II is caused by homozygous or compound heterozygous loss-of-function mutations in the KCNJ1 gene encoding ROMK. This subtype is typically described as a severe antenatal form of the disease, often presenting with polyhydramnios before childbirth. CASE REPORT Here, we describe the case of a 26-year-old man who presented with generalized body weakness and hypokalemia and was ultimately diagnosed with Bartter syndrome type II based on his clinical features coupled with the identification of a homozygous missense mutation in KCNJ1. CONCLUSIONS To the best of our knowledge, this is the fifth case of late-onset Bartter syndrome type II. Interestingly, the mutation identified in our patient has been previously described in patients with antenatal Bartter's Syndrome. The late presentation in our patient suggests a surprising degree of phenotypic variability, even in patients carrying the identical disease-causing mutation.

| S-EPMC7534490 | biostudies-literature

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