Syndrome de Gitelman chez l'enfant: vraie hypokaliémie mais faux syndrome de Bartter [Gitelman syndrome in children: true hypokalemia but false Bartter syndrome].

Détails

ID Serval
serval:BIB_5897FC93E7BA
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Syndrome de Gitelman chez l'enfant: vraie hypokaliémie mais faux syndrome de Bartter [Gitelman syndrome in children: true hypokalemia but false Bartter syndrome].
Périodique
Archives de Pédiatrie
Auteur⸱e⸱s
Fischbach M., Hoellinger M.J., Tersic J., Matz B., Mengus L., Desprez P., Chaigne D., Stoll C., Taimi A., Simeoni U.
ISSN
0929-693X (Print)
ISSN-L
0929-693X
Statut éditorial
Publié
Date de publication
1994
Peer-reviewed
Oui
Volume
1
Numéro
10
Pages
916-918
Langue
français
Notes
Publication types: English Abstract ; Journal Article Publication Status: ppublish
Résumé
BACKGROUND: Gitelman's syndrome or familial hypokalemia-hypomagnesemia and Bartter syndrome share some common features but their prognosis is quite different.
CASE REPORT: Four unrelated children, aged 5 to 12 years, were studied because they suffered from muscle cramps and/or abdominal pain. Supportive findings included: hypokalemia (2.1 to 2.9 mmol/l), metabolic alkalosis (31 to 34 mmol/l), hyperkaliuresis (5.8 to 7.1 mmol/kg/day), hypomagnesemia (0.58 to 0.64 mmol/l), hypermagnesuria (0.19 to 0.23 mmol/kg/day), hypocalciuria (0.012 to 0.021 mmol/kg/day). Blood pressure contrasting with high renin activity (19.04 to 20.03 ng/ml/hr) was normal. Chloride fractional excretion after oral water supplementation was only slighty decreased and hypercalciuric response to furosemide administration was not observed. Supplementation with magnesium chloride failed to correct hypomagnesemia while potassium chloride improved hypokalemia.
CONCLUSIONS: Age of onset, tetany manifestations, absence of growth retardation, hypermagnesuria despite, hypomagnesemia, hypocalciuria not improved by furosemide favor the diagnosis of Gitelman's syndrome rather than that of Bartter syndrome initially considered.
Mots-clé
Bartter Syndrome/diagnosis, Calcium/urine, Child, Child, Preschool, Diagnosis, Differential, Humans, Hypokalemia/complications, Hypokalemia/genetics, Magnesium/urine, Magnesium Deficiency/complications, Magnesium Deficiency/genetics, Syndrome, Tetany/complications
Pubmed
Web of science
Création de la notice
22/02/2015 9:22
Dernière modification de la notice
20/08/2019 14:12
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