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

doi:10.1053/j.ajkd.2006.10.001

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

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

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 language	English
Pages (from-to)	91-98
Number of pages	8
Journal	American Journal of Kidney Diseases
Volume	49
Issue number	1
DOIs	https://doi.org/10.1053/j.ajkd.2006.10.001
Publication status	Published - Jan 2007

Keywords

Bartter syndrome
chloride channel gene CLCNKB
growth retardation
proteinuria

ASJC Scopus subject areas

Nephrology

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Bettinelli, A., Borsa, N., Bellantuono, R., Syrèn, M. L., Calabrese, R., Edefonti, A., Komninos, J., Santostefano, M., Beccaria, L., Pela, I., Bianchetti, M. G., & Tedeschi, S. (2007). Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB: Long-Term Management and Outcome. American Journal of Kidney Diseases, 49(1), 91-98. https://doi.org/10.1053/j.ajkd.2006.10.001

Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB : Long-Term Management and Outcome. / Bettinelli, Alberto; Borsa, Nicolò; Bellantuono, Rosa; Syrèn, Marie Louise; Calabrese, Raffaele; Edefonti, Alberto; Komninos, John; Santostefano, Marisa; Beccaria, Luciano; Pela, Ivana; Bianchetti, Mario G.; Tedeschi, Silvana.

In: American Journal of Kidney Diseases, Vol. 49, No. 1, 01.2007, p. 91-98.

Research output: Contribution to journal › Article › peer-review

Bettinelli, A, Borsa, N, Bellantuono, R, Syrèn, ML, Calabrese, R, Edefonti, A, Komninos, J, Santostefano, M, Beccaria, L, Pela, I, Bianchetti, MG & Tedeschi, S 2007, 'Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB: Long-Term Management and Outcome', American Journal of Kidney Diseases, vol. 49, no. 1, pp. 91-98. https://doi.org/10.1053/j.ajkd.2006.10.001

Bettinelli, Alberto ; Borsa, Nicolò ; Bellantuono, Rosa ; Syrèn, Marie Louise ; Calabrese, Raffaele ; Edefonti, Alberto ; Komninos, John ; Santostefano, Marisa ; Beccaria, Luciano ; Pela, Ivana ; Bianchetti, Mario G. ; Tedeschi, Silvana. / Patients With Biallelic Mutations in the Chloride Channel Gene CLCNKB : Long-Term Management and Outcome. In: American Journal of Kidney Diseases. 2007 ; Vol. 49, No. 1. pp. 91-98.

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abstract = "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 (",

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AU - Edefonti, Alberto

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AU - Santostefano, Marisa

AU - Beccaria, Luciano

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

Abstract

Keywords

ASJC Scopus subject areas

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