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

Nephrol Dial Transplant. 2010 Sep;25(9):2976-81. doi: 10.1093/ndt/gfq119. Epub 2010 Mar 10.


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 <90 mL/min/1.73 m(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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bartter Syndrome / classification
  • Bartter Syndrome / drug therapy
  • Bartter Syndrome / genetics*
  • Body Height
  • Body Weight
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Glomerular Filtration Rate
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Prognosis
  • Sodium-Potassium-Chloride Symporters / genetics*
  • Solute Carrier Family 12, Member 1
  • Time Factors


  • KCNJ1 protein, human
  • Potassium Channels, Inwardly Rectifying
  • SLC12A1 protein, human
  • Sodium-Potassium-Chloride Symporters
  • Solute Carrier Family 12, Member 1