Long-term follow-up of patients with Bartter syndrome type I and II.
Nephrol Dial Transplant
; 25(9): 2976-81, 2010 Sep.
Article
em En
| MEDLINE
| ID: mdl-20219833
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Bartter
/
Canais de Potássio Corretores do Fluxo de Internalização
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Simportadores de Cloreto de Sódio-Potássio
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Mutação
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
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Infant
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Male
/
Newborn
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article