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

Puricelli, Elena; Bettinelli, Alberto; Borsa, Nicolò; Sironi, Francesca; Mattiello, Camilla; Tammaro, Fabiana; Tedeschi, Silvana; Bianchetti, Mario G (2010). Long-term follow-up of patients with Bartter syndrome type I and II. Nephrology, dialysis, transplantation, 25(9), pp. 2976-2981. Oxford: Oxford University Press 10.1093/ndt/gfq119

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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 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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Bianchetti, Mario Giovanni

ISSN:

0931-0509

Publisher:

Oxford University Press

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:07

Last Modified:

26 Oct 2019 23:23

Publisher DOI:

10.1093/ndt/gfq119

PubMed ID:

20219833

Web of Science ID:

000282541600025

BORIS DOI:

10.7892/boris.147

URI:

https://boris.unibe.ch/id/eprint/147 (FactScience: 196558)

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