Childhood Kidney Diseases

  • 제25권1호
  • /
  • Pages.35-39
  • /
  • 2021
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  • 2384-0242(pISSN)
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  • 2384-0250(eISSN)
Korean Society of Pediatric Nephrology (대한소아신장학회)
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A Novel Homozygous CLCNKB Mutation of Classic Bartter Syndrome Presenting with Renal Cysts in 6-year-Old Identical Twin Boys : A Case Report

  • Son, Min Hwa (Department of Pediatrics, Korea University College of Medicine) ;
  • Yim, Hyung Eun (Department of Pediatrics, Korea University College of Medicine) ;
  • Yoo, Kee Hwan (Department of Pediatrics, Korea University College of Medicine)
  • 투고 : 2021.01.26
  • 심사 : 2021.03.08
  • 발행 : 2021.06.30
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초록

Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene. While chronic hypokalemia is known to induce renal cyst formation in different renal diseases, renal cyst formation in Bartter syndrome is rarely reported. Russian six-year-old identical male twins were referred to our hospital for the evaluation of renal cysts, which were incidentally detected on abdominal sonography due to diarrhea. Both twins had shown symptoms of polydipsia, polyuria, and nocturia since they were one year olds. Vital signs including blood pressure were normal in both twins. Renal sonography revealed nephromegaly, increased echogenicity of renal cortex, and various sized multiple cysts in both kidneys for both twins. Laboratory findings included hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis. Bartter syndrome with renal cysts were suspected. Genetic analysis for both twins confirmed a homozygous c.1614delC deletion on exon 15 of the CLCNKB gene, which was confirmed as a previously unreported variant to the best of our knowledge. They were managed with potassium chloride, nonsteroidal anti-inflammatory drugs, and angiotensin-converting-enzyme inhibitors. Metabolic alkalosis, hypokalemia, hypochloremia, and polyuria partially improved during the short course of treatment. This is the first report of a homozygous mutation in the CLCNKB gene in an identical twin, presenting with renal cysts.

키워드

과제정보

We would like to give special thanks to Professor Myung-Hyun Nam (Department of Laboratory Medicine, College of Medicine, Korea University) for carrying out the genetic analysis.

참고문헌

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