Syndrome de Bartter

Le syndrome de Bartter est une maladie rare[1] affectant l'anse de Henle, partie du néphron. La maladie se caractérise par une alcalose hypokaliémique (baisse du taux potassium sanguin), des taux élevés de rénine et d'aldostérone dans le plasma sanguin, une faible pression sanguine et une résistance vasculaire à l'angiotensine II[1].

Description

Le syndrome de Bartter devient apparent avant la naissance, causant une augmentation du liquide amniotique, ce qui augmente le risque de naissance prématurée. Les personnes avec cette condition ne parviennent souvent pas à croître et à prendre du poids au rythme attendu. Ils perdent un montant élevé de chlorure de sodium dans leur urine, causant une déshydratation, de la constipation et une production élevée d'urine. Ils sont souvent aussi à risque d'ostéoporose causé par la perte importante de calcium dans leur urine, qui se dépose dans les reins, causant un durcicement des tissus renaux. La baisse du potassium sanguin peut cause une fatigue, de la faiblesse et des crampes musculaires. Aussi, les jeunes attentes de la maladie peuvent développer des troubles d'ouïe causés par un développement anormal du structure des oreilles[2].

La maladie est premièrement décrite en 1962 par Frederic Bartter et collègues dans un papier portant sur la condition de deux patients[3].

Notes et références

  1. ↑ a et b « Syndrome de Bartter », sur OrphaNet (consulté le ).
  2. ↑ (en) « Bartter syndrome », sur Genetics Reference Homepage du National Library of Medicine (consulté le ).
  3. ↑ (en) Amirlak, I. et Dawson, K.P., « Bartter syndrome: an overview », QJM, vol. 93, no 4,‎ , p. 207-215 (DOI 10.1093/qjmed/93.4.207, lire en ligne, consulté le ).

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