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

Abstract

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.

• Authors: Elena Puricelli, Alberto Bettinelli, Nicolò Borsa, Francesca Sironi, Camilla Mattiello, Fabiana Tammaro, Silvana Tedeschi, Mario G Bianchetti, Italian Collaborative Group for Bartter Syndrome
• Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (Nephrol Dial Transplant) Vol. 25 Issue 9 Pg. 2976-81 (Sep 2010) ISSN: 1460-2385 [Electronic] England
• PMID: 20219833 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• Bartter Syndrome (classification, drug therapy, 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