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 (2007). Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome. American Journal of Kidney Diseases, 49(1), pp. 91-8. Philadelphia, Pa.: W.B. Saunders 10.1053/j.ajkd.2006.10.001

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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 (<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). 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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Bianchetti, Mario Giovanni

ISSN:

0272-6386

ISBN:

17185149

Publisher:

W.B. Saunders

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:55

Last Modified:

07 Jun 2016 13:28

Publisher DOI:

10.1053/j.ajkd.2006.10.001

PubMed ID:

17185149

Web of Science ID:

000248566900011

URI:

https://boris.unibe.ch/id/eprint/23400 (FactScience: 41705)

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