Long-term follow-up of patients with Bartter syndrome type i and II

Elena Puricelli, Alberto Bettinelli, Nicol Borsa, Francesca Sironi, Camilla Mattiello, Fabiana Tammaro, Silvana Tedeschi, Mario G. Bianchetti

Research output: Contribution to journalArticlepeer-review


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 were born pre-term with a normal for gestational age body weight. Medical treatment at the last follow-up control included supplementation with potassium in 13, non-steroidal anti-inflammatory agents in 12 and gastroprotective drugs in five patients. At last follow-up, body weight and height were within normal ranges in the patients. Glomerular filtration rate was 2 in four patients (one of them with a pathologically increased urinary protein excretion). In three patients, abdominal ultrasound detected gallstones. The group of patients with antenatal Bartter syndrome had a lower renin ratio (P <0.05) and a higher standard deviation score (SDS) for height (P <0.05) than a previously studied group of patients with classical Bartter syndrome.Conclusions. Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years. Gallstones might represent a new complication of antenatal Bartter syndrome.

Original languageEnglish
Pages (from-to)2976-2981
Number of pages6
JournalNephrology Dialysis Transplantation
Issue number9
Publication statusPublished - Sept 2010


  • Bartter syndrome
  • cholelithiasis
  • growth retardation
  • KCNJ1 gene
  • SLC12A1 gene

ASJC Scopus subject areas

  • Nephrology
  • Transplantation


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