Journal Article

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

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

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 25, issue 9, pages 2976-2981
Published in print September 2010 | ISSN: 0931-0509
Published online March 2010 | e-ISSN: 1460-2385 | DOI:
Long-term follow-up of patients with Bartter syndrome type I and II

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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 m2 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.

Keywords: Bartter syndrome; cholelithiasis; growth retardation; KCNJ1 gene; SLC12A1 gene

Journal Article.  3397 words.  Illustrated.

Subjects: Nephrology

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