Download 8 CYSTINOSIS FACTS - Centre for Genetics Education

Produced
by the Centre for Genetics Education.
CYSTINOSIS
Produced by the Centre for Genetics Education.
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Internet: http://www.genetics.edu.au
Internet: http://www.genetics.edu.au
Includes: Nephropathic cystinosis, non-nephropathic cystinosis, intermediate cystinosis
FACTS
Cystinosis is a genetic condition which leads to the impaired transport of cystine out of cell compartments called lysosomes. Cystine is an
amino acid or chemical making up proteins. Lysosomes, which are membrane bound particles within cells, aid in intracellular digestive
function. People with cystinosis get an accumulation of cystine in tissues throughout their body and this can cause certain organs to
malfunction. One of the major complications of cystinosis is renal Fanconi syndrome which causes the kidneys to produce excessive urine
(polyuria). This must be treated appropriately as it can lead to excessive loss of nutrients and dehydration in an individual with cystinosis.
Cystinosis is inherited in an autosomal recessive manner. The condition is caused by both copies of the CTNS gene being faulty. The CTNS
gene is located on the short ‘p’ arm of chromosome 17, at 17p13.
Support Groups can provide individuals and families with information about genetic conditions, community resources and an
understanding and empathic ear.
If you are not able to contact the services listed below, please call the Association of Genetic Support of Australasia (AGSA) on
(02) 9211 1462 or visit www.agsa-geneticsupport.org.au for support and assistance.
Further information and details of your local genetic counselling service can be found at www.genetics.edu.au, or please call
The Centre for Genetics Education on (02) 9462 9599.
www.genetics.edu.au
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