Treating Fragile X syndrome with the diuretic bumetanide: a case report

Acta Paediatr. 2013 Jun;102(6):e288-90. doi: 10.1111/apa.12235.


We report that daily administration of the diuretic NKCC1 chloride co-transporter, bumetanide, reduces the severity of autism in a 10-year-old Fragile X boy using CARS, ADOS, ABC, RDEG and RRB before and after treatment. In keeping with extensive clinical use of this diuretic, the only side effect was a small hypokalaemia. A double-blind clinical trial is warranted to test the efficacy of bumetanide in FRX.

Conclusion: This single case report showed an improvement of the scores of each test used after 3 months of treatment. Double-blind clinical trials are warranted to test the efficacy of bumetanide in FRX.

Publication types

  • Case Reports

MeSH terms

  • Bumetanide / adverse effects
  • Bumetanide / therapeutic use*
  • Child
  • Child Development Disorders, Pervasive / complications*
  • Diuretics / adverse effects
  • Diuretics / therapeutic use*
  • Fragile X Syndrome / complications*
  • Fragile X Syndrome / drug therapy*
  • Humans
  • Hypokalemia / chemically induced
  • Male


  • Diuretics
  • Bumetanide