Information about the Rare Disease atypical Haemolytic Uraemic Syndrome

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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

(fr) Association Polykystose France (APKF)

(fr) and (nl) AIRG Belgium

(fr) AIRG –Switzerland

(es) AIRG-Spain

(en) PKD Charity UK

International Associations

The Polycystic Kidney Disease Foundation

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FEDERG referent and contact person
Claudia Sproedt

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.


More information on Cystinosis

Associations, member of FEDERG

Cystinose-Selbsthilfe e.V.

Cystinose Groep Nederland


International associations

Cystinosis Australia

Brazil Cystinosis Support

Cystinosis France

Cystinosis Support Germany

Cystinosis Chapter India

Cystinosis Foundation Ireland

Italian Cystinosis Association

Cystinosis Mexico AC

Cystinosis South Africa

Cystinosis Spain

Cystinosis UK

Cystinosis Research Network USA

Cystinosis Foundation USA

Cystinosis Research Foundation USA

UCSD Cystinosis Central and Cystine Determination Lab


On going Research Projects   
International Meetings & Events

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FEDERG referent and contact person
Daniel Renault


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

AIRG Belgium
AIRG –Switzerland
GERMANY German Group


International associations



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:

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:


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:


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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