TY - JOUR
T1 - Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB
T2 - Long-Term Management and Outcome
AU - Bettinelli, Alberto
AU - Borsa, Nicolò
AU - Bellantuono, Rosa
AU - Syrèn, Marie Louise
AU - Calabrese, Raffaele
AU - Edefonti, Alberto
AU - Komninos, John
AU - Santostefano, Marisa
AU - Beccaria, Luciano
AU - Pela, Ivana
AU - Bianchetti, Mario G.
AU - Tedeschi, Silvana
PY - 2007/1
Y1 - 2007/1
N2 - 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 (
AB - 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 (
KW - Bartter syndrome
KW - chloride channel gene CLCNKB
KW - growth retardation
KW - proteinuria
UR - http://www.scopus.com/inward/record.url?scp=33845596698&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33845596698&partnerID=8YFLogxK
U2 - 10.1053/j.ajkd.2006.10.001
DO - 10.1053/j.ajkd.2006.10.001
M3 - Article
C2 - 17185149
AN - SCOPUS:33845596698
VL - 49
SP - 91
EP - 98
JO - American Journal of Kidney Diseases
JF - American Journal of Kidney Diseases
SN - 0272-6386
IS - 1
ER -