Bartter Syndrome and Gitelman Syndrome - 19/11/18

Résumé |
Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. Hypokalemic hypochloremic metabolic alkalosis is the common feature. Bartter variants may be associated with polyuria and weakness. Gitelman syndrome is often subtle, and typically diagnosed later life with incidental hypokalemia and hypomagnesemia. Treatment may involve fluid and electrolyte replenishment, prostaglandin inhibition, and renin-angiotensin-aldosterone system axis disruption. Investigators have identified causative mutations but genotypic-phenotypic correlations are still being characterized. Collaborative registries will allow improved classification schema and development of effective treatments.
Le texte complet de cet article est disponible en PDF.Keywords : Salt-losing tubulopathy, Bartter syndrome (BS), Gitelman syndrome (GS), Hypokalemic hypochloremic metabolic alkalosis, Polyuria, Failure to thrive
Plan
| Disclosures: No relevant disclosures. |
Vol 66 - N° 1
P. 121-134 - février 2019 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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