Communauté Alcaptonurie

L'Alcaptonurie est une maladie rare autosomique récessive qui affecte le métabolisme de la tyrosine. Les patients accumulent de l'acide homogentisique 2.000 fois plus que la normale. Il en résulte une dégradation des cartilages et des symptômes similaires à ceux de l'ostéoarthrite.

Video: AKU A Story of Hope par AKU Society UK il y a 5 mois


La Société Alkaptonurie a été mis en place pour aborder ces problèmes. Il vise à sensibiliser la population à alcaptonurie chez les patients, leurs familles, le public et la profession médicale, et pour financer la recherche pour aider à trouver un remède à cette maladie grave et rare...

L'alkaptonurie est une maladie débilitante et maladie génétique rare qui affecte le cartilage et les os, les détruire lentement.  Adu...

Associations

  • AKU Society UK

  • Alcaptonurie France

  • findAKUre

  • L’aim AKU

Filtres

Activité récente dans la communauté Alcaptonurie

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    WHAT ALKAPTONURIA PATIENTS NEED TO KNOW ABOUT NITISINONE (ORFADIN®, NTBC)
    document, publié il y a 20 jours

    Voir la transcription

    Introduction
    This article is designed to give people suffering from Alkaptonuria (AKU) a patient’s viewpoint on what Nitisinone is, why it is a possible treatment for AKU and what is known about the effects from using it over a long period.
    I’ve referenced some websites in this article. Please ...

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    Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria
    topic, publié il y a 24 jours

    Voir la transcription

    From the team in Liverpool, abstract online here:
    http://jcp.bmj.com/content/early/2011/05/07/jcp.2011.090126.extract

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    New AKU Study
    topic, publié il y a 26 jours

    Voir la transcription

    From Nick, Chairman of the AKU Society:

    Dear AKU friends,

    We've just finished a study to calculate the average cost of an AKU patient to the National Health Service. The study was carried out pro bono by Michael Craig, one of our volunteers who is a senior analyst at KPMG. As you'll see fro...

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    AKU Study Compilation of Sample Patient Costs
    document, publié il y a 26 jours

    Voir la transcription

    10 May 2011, .pdf file

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    Question from email
    topic, publié il y a environ 1 mois

    Voir la transcription

    This just in via email from someone:

    "Is there any hope to find real treatment?"

    Anyone care to comment?

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    Cardiovascular manifestations of Alkaptonuria
    news, publié il y a environ 1 mois

    Voir la transcription


    Abstract
    The cardiovascular manifestations of alkaptonuria relate to deposition of ochronotic pigment within heart valves, endocardium, aortic intima and coronary arteries. We assessed 16 individuals with alkaptonuria for cardiovascular disease, including full electrocardiographic and echoca...

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    “Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria”
    news, publié il y a environ 1 mois

    Voir la transcription


    Status: Recruiting, Condition Summary: Alkaptonuria

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    another brother or sister for our son???
    topic, publié il y a 2 mois

    Voir la transcription

    Hello,
    I'm from Belgium.

    Our 6 year old son has alkaptonuria. We would like to give him and his sister (no AKU) another brother or sister. Is this something we can do?????? Or is this disease so bad that we can't choose for another child if there is a chance that he/she will get AKU as wel...

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    New Website for AKU Patient group in Italy
    topic, publié il y a 2 mois

    Voir la transcription

    Sylvia Sestini, of the newly formed patient group for AKU in Italy, called Aim AKU, just announced their new website has been launched.

    Check it out here:
    http://www.aimaku.it/

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    Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with a...
    news, publié il y a 2 mois

    Voir la transcription


    Abstract

    This study was conducted to identify mutations in the homogentisate 1,2 dioxygenase gene (HGD) in alkaptonuria patients among Jordanian population. Blood samples were collected from four alkaptonuria patients, four carriers, and two healthy volunteers. DNA was isolated from periph...