Article
Long-term follow-up of patients with Bartter syndrome type I and II.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 2010
Puricelli Elena, Bettinelli Alberto, Borsa Nicolò, Sironi Francesca, Mattiello Camilla, Tammaro Fabiana, Tedeschi Silvana, Bianchetti Mario G
Abstract excerpt
BACKGROUND: Little information is available on a long-term follow-up in Bartter syndrome type I and II. METHODS: Clinical presentation, treatment and long-term follow-up (5.0-21, median 11 years) were evaluated in 15 Italian patients with homozygous (n = 7) or compound heterozygous (n = 8) mutations in the SLC12A1 (n = 10) or KCNJ1 (n = 5) genes. RESULTS: Thirteen new mutations were identified. The 15 children...
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