Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND

Nephrol Dial Transplant. 2007 Jan;22(1):288-9. doi: 10.1093/ndt/gfl493. Epub 2006 Aug 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Age of Onset
  • Alleles
  • Bartter Syndrome / complications*
  • Bartter Syndrome / genetics*
  • Chloride Channels
  • Deafness / complications
  • Female
  • Glomerular Filtration Rate
  • Homozygote
  • Humans
  • Hypokalemia / complications
  • Kidney / pathology
  • Membrane Proteins / genetics*
  • Mutation*
  • Phenotype

Substances

  • BSND protein, human
  • Chloride Channels
  • Membrane Proteins