Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB: Long-Term Management and Outcome

Alberto Bettinelli, Nicolò Borsa, Rosa Bellantuono, Marie Louise Syrèn, Raffaele Calabrese, Alberto Edefonti, John Komninos, Marisa Santostefano, Luciano Beccaria, Ivana Pela, Mario G. Bianchetti, Silvana Tedeschi

Research output: Contribution to journalArticlepeer-review


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 (≤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 (

Original languageEnglish
Pages (from-to)91-98
Number of pages8
JournalAmerican Journal of Kidney Diseases
Issue number1
Publication statusPublished - Jan 2007


  • Bartter syndrome
  • chloride channel gene CLCNKB
  • growth retardation
  • proteinuria

ASJC Scopus subject areas

  • Nephrology


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