Effect of topiramate on sweat chloride level while screening for cystic fibrosis

BMJ Case Rep. 2018 Sep 5:2018:bcr2018225697. doi: 10.1136/bcr-2018-225697.

Abstract

Cystic fibrosis is the most common life-limiting genetic condition in Caucasians caused by Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene mutations. Sweat chloride is the current gold standard for diagnosis where values >60 mmol/L are diagnostic and values >30 mmol/L are indeterminate. There is limited literature on the effect of medications on the sweat chloride values. We report a case of topiramate being responsible for false-positive testing which resulted in overutilisation of medical resources and psychosocial stress on the family. Topiramate should be considered during the interpretation of the gold standard testing as one of the cause of false-positive sweat tests.

Keywords: cystic fibrosis; healthcare improvement and patient safety; paediatrics (drugs and medicines).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anticonvulsants / adverse effects*
  • Asthma / complications
  • Asthma / drug therapy
  • Chlorides / metabolism*
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / physiopathology
  • False Positive Reactions
  • Female
  • Humans
  • Mass Screening / methods
  • Sweat / chemistry*
  • Sweat / drug effects
  • Topiramate / adverse effects*
  • Tourette Syndrome / complications
  • Tourette Syndrome / drug therapy

Substances

  • Anticonvulsants
  • Chlorides
  • Topiramate