Communauté Alcaptonurie

Voici une sélection d'information en provenance des malades & des professionnels de santé pour mieux comprendre Alcaptonurie

Ressource Alcaptonurie

Questions fréquemment posées pour Alcaptonurie

Voici quelques question et réponses qui pourraient vous intéresser:

If you are a patient or carer with a question about living with AKU, about treatments, or other relevant information please email your question to [email protected] and we will put it to the specialists who have agreed to answer your questions from time to time.

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Pourquoi les études sur l’Alcaptonurie, maladie dégénérative, ont-elles tant tardées?

Le manque de recherche sur l’Alcaptonurie a plusieurs raisons:

- C’est une maladie rare, avec une incidence de 1 sur 250.000 à 1 sur 1.000.000 (soit entre 60 et 250 personnes en France).

- Be...

Tags : Research

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Est ce que certains malades de l’Alcaptonurie souffrent de calculs dans la prostate et si oui, quel traitement suivent-ils?

Des calculs dans la prostate sont constatés assez fréquemment chez les malades de l’Alcaptonurie. Leur traitement est le même que pour les calculs de la prostate résultant d’autres causes. Une opér...

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Ma soeur (qui n’a pas été encore diagnostiquée) voudrait savoir à quel âge les symptômes de l’Alcaptonurie commencent à se manifester chez les femmes, c’est à dire quand commencent les problèmes de dos, les calculs, etc.?

En général les malades, qu’ils soient hommes ou femmes, souffrent de douleurs dans le dos à partir de 20/30 ans.

Ces symptômes de l’Alcaptonurie peuvent apparaître plus tard chez les femmes que ...

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Y a-t-il un régime alimentaire spécial à envisager ? Si oui, quelle est-il ?

Il n’y a pas de recommandations diététiques spécifiques pour les malades de l’Alcaptonurie.

Cependant, il est possible qu’un régime à bas niveau de protéines puisse aider à retarder les problème...

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Quelqu’un a-t-il pris de l’acide ascorbique (vitamine C) et si oui, y a t-il eu des effets secondaires?

Un grand nombre de malades prenent de la vitamine C, pour certains depuis longtemps, depuis même leur enfance. Malgré cela, ils ont les mêmes problèmes d’articulations que les autres malades de l’A...

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Groupes de Patients Alcaptonurie

Voici les associations de patients qui ont une expérience et une expertise dans les maladies Alcaptonurie. Ils sont partenaires dans la creation de ce site. Vous pouvez les contacter pour plus d'information à propos de leur champ d'action.

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  • AKU Society UK

    The AKU Society is a UK registered charity (no. 1101052) dedicated to the support of people diagnosed with a rare genetic disease, Alkaptonuria (AKU). It was set up in 2003 by a patient and his doctor in Liverpool. This initial patient/doctor relationship has become a core principle to the society. Today we retain that through supporting patients with AKU and promoting research into understanding AKU’s progression and treatment.

    Contacter AKU Society UK
  • Alcaptonurie France

    L'Association pour la Lutte Contre l'Alcaptonurie est une association caritative qui a pour buts de: * Apporter un soutien aux patients et leur permettre de se rencontrer. * Diffuser l'information sur la maladie et sensibiliser les professionnels de la santé. * Promouvoir la recherche médicale. * Collecter des fonds pour réaliser ces buts. * Mettre en relation les patients avec les médecins, généticiens et biologistes compétents.

    Contacter Alcaptonurie France
  • findAKUre

    findAKUre is an international partnership involving patient organisations and research groups. We set up findAKUre to foster ground-breaking scientific research and patient partnership in order to drive forward our quest for a cure to AKU. findAKUre is growing rapidly from its origins in the UK to include scientists and patients from across Europe, North America and the Middle East. Indeed, our team in Jordan has identified 40 patients in a single village, including nine in a single family, which is why we are stepping up our work there. We are also increasingly interacting with industry in order to plan clinical trials of promising new treatments. Our aims are to: * Provide the latest high quality scientific information about AKU. * Support AKU patients and their families. * Recruit scientists and clinicians and to promote their research into the causes, effects and treatments of AKU. * Help medical professionals find the best way to support new AKU patients. * Ultimately, to bring together all the resources needed to find a cure to AKU. If you are an AKU scientist, clinician, industrialist or patient, please do get in touch with Dr Nicolas Sireau, Chairman of the AKU Society, at [email protected]

    Contacter findAKUre
  • L’aim AKU

    L' Associazione L’aimAKU è un’associazione di volontariato che opera per: * Riunire tutti i malati di alcaptonuria, le loro famiglie, e tutti coloro che intendono contribuire alla lotta contro questa malattia, favorendo incontri fra loro e con esperti. * Promuovere le iniziative volte a migliorare le condizioni di salute dei pazienti e la qualità della vita degli stessi, dei lori familiari e dei caregiver. * Sensibilizzare le autorità sanitarie alla necessità di potenziare l’attività preventiva, curativa e riabilitativa per l’alcaptonuria. * Promuovere iniziative di informazione alla pubblica opinione sulle complicazioni invalidanti dell’alcaptonuria e sulle esigenze dei malati e delle loro famiglie. * Promuovere campagne di raccolta fondi per far acquisire all’associazione i mezzi finanziari utili all’espletamento delle sue funzioni e promuovere ogni iniziativa che valga a potenziare l’attività dell’associazione stessa. * Promuovere la ricerca scientifica nel campo dell’alcaptonuria. * Informare i pazienti sui progressi della ricerca scientifica nel campo dell’alcaptonuria. * Richiedere la collaborazione di società scientifiche che operano nell’interesse dei malati affetti da alcaptonuria. * Promuovere il collegamento con altre associazioni nazionali ed internazionali che perseguono gli stessi scopi. * Promuovere la realizzazione di centri ad alta specialità per la cura dell’alcaptonuria. * Intraprendere tutte le iniziative necessarie per il raggiungimento degli scopi associativi.

    Contacter L’aim AKU

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Documents Alcaptonurie

Ressources, documents et informations détaillées sur Alcaptonurie. Dans cette section, vous pouvez télécharger des brochures, demander des documents imprimés ou trouver des liens utiles.

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Articles Alcaptonurie

Articles les plus récents :

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Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers

Authors: L. Ranganath, A. M. Taylor, A. Shenkin, W. D. Fraser, J. Jarvis, J. A. Gallagher and N. Sireau

Summary: "This paper details the work of the AKU Society UK and the University of Li...

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Orphanet: Alcaptonurie (2007)

L'alcaptonurie est caractérisée par l'accumulation d'acide homogentisique (AHG) et de son produit d'oxydation (acide benzoquinone acétique, ABQA) conduisant &ag...

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Symptômes

De nombreux jeunes individus présentent peu ou pas de symptômes et ainsi ignorent leur maladie jusqu'à l'âge adulte.

Coloration de l'urine :

On aper&...

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Qu'est-ce que l'Alcaptonurie?

L'Alcaptonurie est une maladie rare, causée par le manque d'un enzyme appelé Acide HomoGentisique Oxydase (HGO). C'est une maladie génétique, ce qui signifie...

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Living with AKU

Exercise
AKU makes your cartilage and bone brittle. Therefore it is best to avoid putting too much stress on your joints. This does not mean that you should avoid exercise completely; it can stil...

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Evènements Alcaptonurie

Événements les plus récents :

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  • Décembre 2011

  • International Day of Persons with Disabilities

    On 3 décembre 2011

    The annual observance of the International Day of Persons with Disabilities on 3 December was established by the International Year for Disabled Persons (1981). The Day aims to promote a better understanding of disability issues with a focus on the rights of persons with disabilities and gains to be derived from the integration of persons with disabilities in every aspect of the political, social, economic and cultural life of their communities. The goal of full and effective participation of persons with disabilities in society and development was established by the World Programme of Action concerning Disabled Persons, adopted by the United Nations General Assembly in 1982.

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Actualités de la communauté Alcaptonurie

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    A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
    News, publié il y a 6 jours

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    Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA) accumulates and is excreted in gram quantities in the urine, which turns dark upon alkalization. The first symptoms, occurring in early adulthood, involve a painful, progressively debilitating arthritis of the spine and large joints....

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

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    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 echocardiographic assessment....

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

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    Status: Recruiting, Condition Summary: Alkaptonuria

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

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    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 peripheral blood. All 14 exons of the HGD gene were amplified using the polymerase chain reaction (PCR) technique. The PCR products were then purified and analyzed by sequencing. Five mutations were identified in our samples. Four of them were novel C1273A, T1046G, 551-552insG, T533G and had not been previously reported, and one mutation T847C has been described before. The types of mutations identified were two missense mutations, one splice site mutation, one frameshift mutation, and one polymorphism. We present the first molecular study of the HGD gene in Jordanian alkaptonuria patients. This study provides valuable information about the molecular basis of alkaptonuria in Jordanian population.

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    Black aorta in a patient with alkaptonuria (ochronosis).
    News, publié il y a 3 mois

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    J Cardiovasc Med (Hagerstown). 2011 Mar 16;

    Authors: Concistrè G, Fiorani B, Ranocchi F, Casali G, Loforte A, Musumeci F

    A rare cause of valvular heart disease is the deposition of foreign material in the valvular tissues, including material accumulating as a result of inborn errors of metabolism of the essential amino acids. Alkaptonuria can result in accumulation of homogentisic acid. We report the case of a patient with alkaptonuria undergoing surgery for aortic valve replacement.

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    Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers.
    News, publié il y a 4 mois

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    Ranganath L, Taylor AM, Shenkin A, Fraser WD, Jarvis J, Gallagher JA, Sireau N

    J Inherit Metab Dis. 2011 Feb 11;

    Progress in research into rare diseases is challenging. This paper discusses strategies to identify individuals with the rare genetic disease alkaptonuria (AKU) within the general population. Strategies used included a questionnaire survey of general practitioners, a dedicated website and patient network contact, targeted family screening and medical conference targeting. Primary care physicians of the UK were targeted by a postal survey that involved mailing 11,151 UK GPs; the response rate was 18.2%. We have identified 75 patients in the UK with AKU by the following means: postal survey (23), targeted family screening (11), patient networks and the website (41). Targeting medical conferences (AKU, rare diseases, rheumatology, clinical biochemistry, orthopaedics, general practitioners) did not lead to new identification in the UK but helped identify overseas cases. We are now aware of 626 patients worldwide including newly identified non-UK people with AKU in the following areas: Slovakia (208), the rest of Europe (including Turkey) (79), North America (including USA and Canada) (110), and the rest of the world (154). A mechanism for identifying individuals with AKU in the general population-not just in the UK but worldwide-has been established. Knowledge of patients with AKU, both in the UK and outside, is often confined to establishing their location in a particular GP practice or association with a particular medical professional. Mere identification, however, does not always lead to full engagement for epidemiological research purposes or targeting treatment since further barriers exist.

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    Ochronosis: report of two familial cases.
    News, publié il y a 4 mois

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    Abstract

    Background : Ochronosis of alkaptonuria is a rare hereditary autosomal recessive disease in wich there is an absence of homogentisic acid oxidase resulting in accumulation of homogentisic acid in tissues. Aim: To report a new case of alkaptonuria Case report : A 49-year-old man had been followed for 4 years for chronic lombalgia and arthropaty of two knees. He is married to his cousin and father of 4 girls. His parents are also cousins. The clinical examination has found a cutanuous pigmentation and a lumbar stiffness. At biological checking, creatininemia was at 190 μmol/L and there are not inflammatory indicators. The radiography have shown a discal dorsolumbar calcifications, anterior inter somatic bridges and bilateral arthritis of knees without articular chondrocalcinosis. The diagnosis of ochronosis have been suspected and confirmed by the blackness of urine and the dosage of alkaptonuria. The patient has been treated symptomatiquely. Familial investigation have revealed that his daughter suffred from the same disease with the notion of blackness of urine. She is 12 year old and she's asymptomatic on the osteoarticular level. Conclusion: Alkaptonuria causes a degenerative arthropaty wich can endanger functional prognosis. Early diagnosis and scanning of this innate error of metabolism by genetic study play a fundamental interest, especially for molecular and genetic advisement.

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    The AKU Guide for Rare Disease Patient Groups
    News, publié il y a 5 mois

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    There are 7,000 rare diseases. AKU is just one of them, although it has a place in the history books for being the first metabolic disease ever identified, in 1901. This blog provides advice, tips and suggestions for the wider rare disease movement based on our experience on AKU. Please read on and don't hesitate to comment.

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    Nine cases of Alkaptonuria in one family in southern Jordan
    News, publié il y a 6 mois

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    Abstract

    Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by a deficiency of homogentisate 1,2-dioxygenase (HGO) in the liver. This results in excretion of large quantities of homogentisic acid (HGA) (also called alkapton) in the urine and a slowly progressive deposition of homogentisic acid and its oxidative product in connective tissues. Clinical characteristic features of alkaptonuria are darkening of urine, bluish-dark pigmentation of connective tissues (ochronosis) and arthritis of large joints and spine. Cardiovascular and genitourinary systems may also be affected. In this report, we present the initial results of screening family members with history of alkaptonuria in southern region of Jordan. We present 9 cases of alkaptonuria (two males and seven females) in one Jordanian family. The history, signs and symptoms, diagnostic techniques and treatment options of alkaptonuria are reviewed in this article.

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    Dermatology Online Journal: Alkaptonuria (2010)
    News, publié il y a 7 mois

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    Abstract

    A 69-year-old woman presented with a 30-year history of lower back and large joint pain of the hips and shoulders. On examination blue-grey, pigmented macules were present over the cartilaginous portions of the ears and on the sclera. Past medical history included aortic stenosis. Urine homogentisic acid level was elevated, which is diagnostic for alkaptonuria. Alkaptonuria is an autosomal recessive disorder that results in deficiency of homogentisic acid oxidase and in the accumulation of homogentisic acid in connective tissue. Disease can result in blue-grey pigmentation of the cartilage, sclerae, face, and hands as well as severe arthropathy and cardiac valve disease. Treatment is limited at this time. Promising early reports of the use of nitisinone have prompted ongoing trials of this therapeutic agent.