La drépanocytose et son traitement Reviewed by Momizat on . Une maladie particulièrement douloureuse, la drépanocytose est une maladie génétique du sang. C'est une maladie liée à une anomalie de l’hémoglobine. C’est actu Une maladie particulièrement douloureuse, la drépanocytose est une maladie génétique du sang. C'est une maladie liée à une anomalie de l’hémoglobine. C’est actu Rating: 0

La drépanocytose et son traitement

2517075fad_bloodUne maladie particulièrement douloureuse, la drépanocytose est une maladie génétique du sang. C’est une maladie liée à une anomalie de l’hémoglobine. C’est actuellement la maladie génétique la plus fréquemment dépistée en France. Environ 350 nouveau-nés naissent chaque année avec une drépanocytose. Cette maladie touche actuellement essentiellement les enfants dont les parents sont originaires des Antilles, d’Afrique noire, ou d’Afrique du Nord, mais dans quelques années, du fait du brassage croissant des populations, cette maladie pourra concerner tous les enfants.

La drépanocytose : Une maladie de l’hémoglobine

L’hémoglobine est le constituant principal du globule rouge et sert à transporter l’oxygène nécessaire à tous les organes du corps. L’hémoglobine normale s’appelle hémoglobine A. L’enfant drépanocytaire ne fabrique qu’une hémoglobine anormale, l’hémoglobine S, qui a comme particularité de former des amas dans les globules rouges qui deviennent alors fragiles et déformés. Les globules rouges drépanocytaires prenant la forme d’une faucille, leur déformation est appelée falciformation.

A la base de la maladie : des globules rouges déficients

Les globules rouges drépanocytaires ont une durée de vie raccourcie par rapport aux globules rouges normaux car ils sont fragiles et donc plus rapidement détruits par l’organisme. Leur destruction accélérée explique l’un des signes majeurs de la drépanocytose,l’anémie (nombre insuffisant de globules rouges). Les globules rouges déformés sont rigides et ne parviennent plus à traverser les petits vaisseaux sanguins. Ils les bouchent et par conséquence, l’oxygène arrive mal au niveau des organes. Le manque d’oxygène explique l’autre signe majeur de la drépanocytose, les crises douloureuses, appelées crises vaso-occlusives. Les infections sévères et brutales sont le troisième signe majeur de la drépanocytose.

Des symptômes dès le plus jeune âge

Dès l’âge de quelques mois, les complications peuvent apparaître et les parents doivent apprendre à les reconnaître. Elles sont cependant très variables d’un enfant à l’autre. Certains sont peu malades, d’autres souvent, et il est impossible de prévoir l’évolution.

Les infections sont les complications les plus sérieuses car elles peuvent être brutales et sévères. La fièvre chez un enfant drépanocytaire doit toujours alerter et nécessite de consulter très rapidement un médecin. Les crises douloureuses peuvent débuter, chez le nourrisson, par le syndrome pieds-mains, qui se manifeste par un gonflement des pieds et des mains. La peau est tendue et luisante, et l’enfant a mal. Chez l’enfant plus âgé, les crises douloureuses les plus fréquentes sont au niveau des os (membres, côtes et dos), mais peuvent intéresser le ventre ou la poitrine. Ces crises sont favorisées par la déshydratation (lorsque l’enfant ne boit pas assez), les changements brutaux de température, les bains en eau froide, la fièvre, une activité sportive trop intense, le stress et l’altitude.

Lorsque les douleurs sont importantes, l’enfant doit être amené à l’hôpital pour y être soulagé, parfois par de la morphine. L’anémie se traduit par une pâleur, une fatigue, ou un essoufflement. Elle est en général assez bien tolérée, sauf quand elle s’aggrave brutalement. Ceci peut se voir chez le nourrisson lors d’une autre complication sévère, la crise de séquestration splénique aiguë (le sang s’accumule dans la rate qui grossit brutalement). Elle se manifeste par une pâleur encore plus importante, des difficultés à respirer, des difficultés à téter ou des troubles de conscience (l’enfant ne réagit pas comme d’habitude aux stimulations). Le ventre de l’enfant est dur, augmenté de volume, et l’enfant semble avoir mal. L’enfant doit être conduit en urgence à l’hôpital pour y être transfusé.

Traitements

Certaines complications de la drépanocytose peuvent être évitées grâce à un traitement préventif prescrit par un médecin et grâce à l’éducation parentale. Il est donc important que l’enfant drépanocytaire soit pris en charge par une équipe spécialisée, et ce le plus rapidement possible après la naissance.

L’antibiothérapie prophylactique et les vaccinations On peut éviter les infections en prenant un antibiotique (Oracilline) tous les jours. Les enfants doivent aussi être rapidement vaccinés, comme tous les autres enfants, mais aussi contre la grippe, l’hépatite B, et les infections à Pneumocoques.

Chez l’enfant plus grand, il ne faut pas oublier les rappels des vaccins. En cas de crise douloureuse, il faut faire boire l’enfant abondamment et donner des antalgiques (paracétamol, codéine) ou des anti-inflammatoires (nureflex). Si les douleurs persistent, l’enfant devra être conduit à l’hôpital. Il faut aussi éviter les facteurs qui favorisent les crises

Votre enfant doit boire abondamment, en particulier lors des efforts physiques et des fortes chaleurs. Il ne doit pas prendre de bains froids et se couvrir dès qu’il fait froid. S’il a de la fièvre, il faut la faire baisser rapidement. Il ne doit pas être amené en altitude au dessus de 1500m (attention aux voyages scolaires à la montagne). En cas d’aggravation de l’anémie, votre enfant pourra avoir besoin d’une transfusion sanguine (perfusion de globules rouges provenant d’un donneur volontaire de sang)

Lorsque les malades drépanocytaires ont des complications fréquentes (crises vaso-occlusives douloureuses répétées dans l’année, séquestrations spléniques, syndrome thoracique aigu), on dispose de plusieurs autres traitements. Ces traitements peuvent dans certains cas, améliorer considérablement la maladie, mais ne sont jamais anodins et ne sont proposés que lorsque la maladie est jugée sévère.

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