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Updated: Jul 18, 2026

Study of the Functions and Activities of Neuronal K-Cl Co-Transporter KCC2 Using Western Blotting
Published on: December 9, 2022
Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome
Alberto Bettinelli1, Nicolò Borsa, Rosa Bellantuono
1Pediatric Renal Unit and Laboratory of Medical Genetics, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, IRCCS. a.bettinelli@ospedale.lecco.it
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 (
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.
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