Article
Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jan 2007
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
Abstract excerpt
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...
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