ATYPICAL HUS

Information about the Rare Disease atypical Haemolytic Uraemic Syndrome

— coming soon —

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POLYKISTOSE APKD & PKR

Useful Links on the PKD

(en) Polycystic Kidney Disease

(en) Autosomal dominant polycystic kidney disease (ADPKD)

(en) Autosomal recessive polycystic kidney disease (ARPKD)

(fr) Orphanet

(en) Polycystic Kidney Disease 1 (PKD1)

(en) Polycystic Kidney Disease 2 (PKD2)

(en) Autosomal Recessive Polycystic Kidney Disease (PKDHD1)

More Information on PKD

Associations Member of FEDERG

(fr) AIRG-France  www.airg-france.fr

(fr) Association Polykystose France (APKF) www.polykystose.org

(fr) and (nl) AIRG Belgium www.airg-be.org

(fr) AIRG –Switzerland www.airg-suisse.org

(es) AIRG-Spain airg-e.onmedic.org

(en) PKD Charity UK

International Associations

The Polycystic Kidney Disease Foundation

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CYSTINOSIS

FEDERG referent and contact person
Claudia Sproedt
E-Mail: csproedt@leben-eben.com

Cystinosis is a rare disease that is typically diagnosed prior to age 2. Cystinosis is a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells. Without specific treatment, children with cystinosis develop end stage kidney failure at approximately age nine. Cystinosis also causes complications in other organs than the kidneys. The complications include muscle wasting, difficulty swallowing, diabetes, and hypothyroidism, crystals in the eyes may cause problems too. It is estimated that at least 2.000 individuals worldwide have cystinosis, though exact numbers are difficult to obtain because the disease is often undiagnosed and/ or misdiagnosed. New treatments, and research of Cystinosis are giving hope for a bright future for children and adults with Cystinosis. Over the last 20 years, the prognosis of a child born with Cystinosis has greatly improved.

SONY DSC

More information on Cystinosis


Associations, member of FEDERG

Germany
Cystinose-Selbsthilfe e.V.
www.cystinose-selbsthilfe.de

Netherlands
Cystinose Groep Nederland

 

International associations

Cystinosis Australia
www.cystinosis.com.au

Brazil Cystinosis Support
www.rarediseasecommunities.org/fr/community/cystinose/article/cystinosis-support-group-in-the-northeast-of-brazil

Cystinosis France
www.cystinose.org

Cystinosis Support Germany
www.cystinose-selbsthilfe.de

Cystinosis Chapter India
www.sapiensfoundation.org/

Cystinosis Foundation Ireland
www.cystinosis.ie

Italian Cystinosis Association
www.cistinosi.it

Cystinosis Mexico AC
www.cystinosismexico.com

Cystinosis South Africa
www.charitysa.co.za/cystinosis-support-group-south-africa.html

Cystinosis Spain
grupocistinosis.org/cast/index.asp

Cystinosis UK
www.cystinosis.org.uk

Cystinosis Research Network USA
www.cystinosis.org

Cystinosis Foundation USA
www.cystinosis.com

Cystinosis Research Foundation USA
www.natalieswish.org

UCSD Cystinosis Central and Cystine Determination Lab
www.cystinosiscentral.org

 

On going Research Projects   
 
International Meetings & Events

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ALPORT SYNDROME

FEDERG referent and contact person
Daniel Renault
E-Mail: daniel.renault34@orange.fr

 

Alport syndrome is a rare disease characterized by the association of a nephropathy progressing toward end stage renal failure, a sensorineural deafness and ocular defects. Visibly bloody urine and protein in the urine are common features of this condition. The disorder was first identified in a British family by University of Edinburgh Medical School graduate Cecil A. Alport in 1927.

It is associated with mutations in one of the three genes encoding the a3, a4, and a5 chains of type IV collagen, which form a distinct network in some basement membrane. AS is heterogeneous at several levels: clinically, genetically, and morphologically.

The frequency is estimated to 1:5,000 in X-chromosomal and 1:50,000 in autosomal disease. Alport-children are usually diagnosed early with low-grade proteinuria. Renal failure can be delayed by angiotensin-converting-enzyme-inhibitor (ACE) therapy.

 

More information on AS
Associations, member of FEDERG

ENGLISH ASUK www.alportuk.org
FRENCH AIRG-France  www.airg-france.fr/archives/1279
AIRG Belgium www.airg-belgique.org
AIRG –Switzerland www.airg-suisse.org
SPANISH AIRG-Spain airg-e.onmedic.org
GERMANY German Group www.alport-selbsthilfe.de

 

International associations

USA alportsyndrome.org
AUSTRALIA www.alport.org.au/HOME.html

 

On going Research Projects   

Early protect-trial:  On the basis of success met earlier in showing that the use of ACE inhibitors are delaying the onset of ESRD, Pr. Gross (Goettingen Germany) has initiated a follow up project aiming at further anticipating the use of ACE-I and start the nephron-protection strategy before reaching the first clinical symptoms.

More Information: www.alport.de/EARLY_PRO-TECT.html

Contact: Prof. Oliver Gross

Athena:  Regulus Therapeutics is a bio-company developing new type of therapy based on Micro-RNA. They are currently proposing to carry out a natural study of Alport Syndrome patients, to advance the knowledge on the disease and prepare for possible future trial see website: www.regulusrx.com

 

International Meetings & Events

Göttingen, Germany, 25-27 September 2015:
International Workshop on AS. The follow up of the Oxford workshop to be held at the University of Prof. O. Gross.

More Information: Download program-leaflet:
Flyer_Alport_2015_Internet-5

 

Oxford 2014:  SHINING LIGHT on AS. This workshop, 15 years after previous one, aimed at strengthening the worldwide community of patients, researchers, clinicians and Pharmas, and initiating a new strategy for research based on the latest on Genomics, bio-cellular approach.  Research projects, development of international registry are the concrete outcomes of the workshop.

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More at: http://www.alportuk.org/news/collaboration-green/shining-light-alport-syndrome

 

 

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