지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 35 - 39 (5page)
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초록· 키워드
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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 antiinflammatory 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.
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참고문헌 (15)
참고문헌 신청
Walsh PR / 2018 / Clinical and diagnostic features of Bartter and Gitelman syndromes / Clinical Kidney Journal 11:302~309
Andrini O / 2015 / ClC-K chloride channels : emerging pathophysiology of Bartter syndrome type 3 / Am J Physiol Renal Physiol 308:F1324~F1334
Bartter FC / 1962 / Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis : a new syndrome / Am J Med 33:811~828
Yang X / 2018 / Bartter Syndrome type 3 : Phenotype-genotype correlation and favorable response to ibuprofen / Front Pediatr 6:153
Besouw MT / 2019 / Bartter and Gitelman syndromes : Questions of class / Pediatric Nephrology :1~10
Andrini O / 2015 / ClC-K chloride channels : emerging pathophysiology of Bartter syndrome type 3 / Am J Physiol Renal Physiol 308:F1324~F1334
Bartter FC / 1962 / Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis : a new syndrome / Am J Med 33:811~828
Yang X / 2018 / Bartter Syndrome type 3 : Phenotype-genotype correlation and favorable response to ibuprofen / Front Pediatr 6:153
Besouw MT / 2019 / Bartter and Gitelman syndromes : Questions of class / Pediatric Nephrology :1~10
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