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Case report
Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy
  1. Binh T Le1,
  2. Cuong M Duong2,
  3. Tien Q Nguyen1 and
  4. Chi-Bao Bui3
  1. 1Department of Nephroendocrinology, City Children’s Hospital, Ho Chi Minh City, Vietnam
  2. 2School of Public Health and Community Medicine, University of New South Wales Faculty of Medicine, Sydney, New South Wales, Australia
  3. 3School of Medicine, Vietnam National University, Ho Chi Minh City, Vietnam
  1. Correspondence to Dr Cuong M Duong; minh.duong{at}unsw.edu.au

Abstract

Classic Bartter syndrome is a rare condition caused by mutations in the CLCNKB gene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism. Early signs and symptoms usually occur before a child’s sixth birthday and include polyuria and developmental delay. We treated a 13-year-old Vietnamese boy with this syndrome presenting with atypical presentations including syncope and hypertension, but normal growth and development. All common causes of hypertension were ruled out. Genetic testing found two novel mutations in the CLCNKB gene, that is, Ser12Ala (exon 2) and Glu192Ter (exon 6). His estimated glomerular filtration rate was 61 mL/min/1.73 m2 and a kidney biopsy showed focal segmental glomerulosclerosis. He was well managed with long-term enalapril therapy instead of non-steroidalanti-inflammatory drugs which are recommended in managing the increased prostaglandin E2 production in Bartter syndrome. Paediatricians should be alerted with the variability in its presentation. To preserve the kidney function, treatment must include preventing factors damaging the kidneys.

  • genetics
  • paediatrics
  • congenital disorders
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Footnotes

  • Contributors Supervised by CMD. Patient was under the care of BTL. Report was written by BTL, CMD, TQN and BCB.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Ethics approval This case report was approved by the City Children’s Hospital (reference 488/QĐ-BVNĐTP).

  • Provenance and peer review Not commissioned; externally peer reviewed.

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