Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome

Am J Kidney Dis. 2007 Jan;49(1):91-8. doi: 10.1053/j.ajkd.2006.10.001.


Background: Little information on the management and long-term follow-up of patients with biallelic mutations in the chloride channel gene CLCNKB is available.

Methods: Long-term follow-up was evaluated from 5.0 to 24 years (median, 14 years) after diagnosis in 13 patients with homozygous (n = 10) or compound heterozygous (n = 3) mutations.

Results: Medical treatment at last follow-up control included supplementation with potassium in 12 patients and sodium in 2 patients and medical treatment with indomethacin in 9 patients. At the end of follow-up, body height was 2.0 standard deviation score or less in 6 patients; 2 of these patients had growth hormone deficiency. Body weight (<or=2.0 standard deviation score in 6 patients) significantly increased (P < 0.05) at the end of follow-up in comparison to values at diagnosis. Nonpostural persistent proteinuria was present in 6 patients, and 4 patients had a glomerular filtration rate less than 75 mL/min/1.73 m(2) (<1.25 mL/s).

Conclusion: These data show that some patients with biallelic mutations in the chloride channel gene CLCNKB tend to present with pathological proteinuria and impaired kidney function after a median follow-up of 14 years, and growth retardation is common and sometimes related to growth hormone deficiency in these patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Bartter Syndrome / drug therapy
  • Bartter Syndrome / genetics*
  • Child
  • Child, Preschool
  • Chloride Channels / genetics*
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Mutation*
  • Time Factors


  • CLCNKB protein, human
  • Chloride Channels