Referenced in: none

Automatically associated channels: ClC4 , ClCK2

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

Authors: 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

Journal, date & volume: Am. J. Kidney Dis., 2007 Jan , 49, 91-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/17185149

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