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robpleticha | Research | il y a 24 jours | Rédigé à l'origine en anglais Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria

From the team in Liverpool, abstract online here:
jcp.bmj.com/content/early/2011/05/07/jcp.2...
robpleticha | Research | il y a 26 jours | Rédigé à l'origine en anglais New AKU Study

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 from the attached presentation, it's an excellent study that provides us with useful data to argue in favour of better coordinated care for AKU patients and access to specialised treatments.

Our conclusion is that the overall costs of AKU patients are tiny when compared to the total budget of the NHS. However, costs per individual AKU patient can be high (up to £100,000 per patient per year in some cases) and could be reduced with consistent access to proper treatment at the right time, which would lead to significant improvements in their health and wellbeing. I expect that similar conclusions would be found elsewhere in the rare disease sector if similar studies were done for other individual rare diseases.

If you have any feedback/comments, please don't hesitate to email them over. Please do keep in mind that the extent of the study was limited by access to resources and information.

All the very best,
Nick

Find the study online here:
bit.ly/jT8Y8l
robpleticha | Treatments | il y a environ 1 mois | Rédigé à l'origine en anglais Question from email

This just in via email from someone:

"Is there any hope to find real treatment?"

Anyone care to comment?
1234 | Family issues | il y a 2 mois | Rédigé à l'origine en anglais another brother or sister for our son???

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 well?? This is so difficult because I have no idea what this disease really means. I don't feel it myself...
Are there members of this community who also have brothers/sisters with AKU. How do they feel?

I would like to hear what you feel about this. Do we have the right to choose for another child? Perhaps this question is answered the best by other AKU patients?
I hope my English is well enough...

Thanks!
4 réponses à cette conversation — Voir toutes les réponses
- 1234 il y a 2 mois | Rédigé à l'origine en anglais
  
  Thank you for your response! (Dutch isn't available, so I will continue in English...)
  I wanted to post this question on the site, because AKU patients feel what it's like to have AKU and if it is wise to choose for another child. Is it a 'risk' that we can take? The opinion of patients is very important to me, because they know this disease the best.
  Thanks to all!
- OliverTimmis il y a 2 mois | Rédigé à l'origine en anglais
  
  Hi,
  I'm not a patient either, but work for the AKU Society in the UK. I cannot make the decision whether to have a child for you, but I can tell you the chances of having another child with AKU is less than having a child without AKU. The disease is inherited by a recessive gene - this means that a child must receive 2 AKU genes to have the disease. Statistically, each child you have has a 1 in 4 (25%) chance of having AKU. However we do know of families where every child has unfortunately inherited AKU.
  
  In the UK, parents of a child with a genetic disease can be referred to a Genetic Counsellor (a specialist doctor) who can better explain your choices. I don't know the situation in Belgium, but it may be a good idea to discuss having another child with your GP.
  
  If you want to know any more, send me another message, Oliver
- 1234 il y a 2 mois | Rédigé à l'origine en anglais
  
  Hi,
  Several years we have been told that this disease "isn't so bad". He cannot have much protein (20g). That's all we have been told. He LOVES to play football (plays now for 2 years!). And he's allways 'helping' his father (bricklayer). He's extremely energetic... I never saw difficulties in that... But now everything changes...
  There is a big difference between not playing football and being in a wheelchair... (very black-white conclusion...)
  Choosing for another baby with a 1 in 4 chance of having AKU?
  I would certainly take the chance if I know that AKU patients can be happy people who can get married, can go to work, can have children... so can enjoy life.
  
  Then a 1 in 4 chance is not so bad.
  But I wouldn't take the chance if it is a life full of struggle, pain, sorrow, sadness,... I can't make my baby go trough this... Then a 1 in 4 chance is to much!
  
  I'm sorry if this looks strange, I try to explain my feelings as good as I can in a different language.
  This is so difficult because I can't feel what AKU means... Only AKU patients can tell that..
  
  So difficult!
  
  *** not that people who don't marry or have children can't be happy! But I would like him to have the choice...

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Actualités de la communauté Alcaptonurie

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
News, publié il y a 5 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....
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....
“Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria”
News, publié il y a environ 1 mois
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Status: Recruiting, Condition Summary: Alkaptonuria
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.
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.
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.
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.
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.
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.
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.