cystinosis


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cystinosis

[‚sis·tə′nō·səs]
(medicine)
A congenital metabolic disorder involving sulfur-containing amino acids, usually cystine; characterized by deposits of cystine crystals in the body organs.
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A kidney transplant - whether from her mother or an anonymous cadaveric donor - will not cure the Falconi's cystinosis, but it will give her a chance at a better, more ordinary life.
Long-term treatment with growth hormone in short children with nephropathic cystinosis.
Accurate measurement of intracellular cystine content is obligatory for the diagnosis of cystinosis as well as for the monitoring of treatment with cysteamine.
In the last two years Hope for Holt has contributed $173,000 to help fund cystinosis research.
According to the company, the EC approval of PROCYSBI was based on data from six clinical trials, including a multi-centre randomised, active-controlled Phase 3 trial of 43 patients with nephropathic cystinosis and extension data from that trial.
Table 1 Primary Etiologies of Kidney Disease in Children Congenital Structural (59%) * Obstructive uropathy * Aplasia/hypoplasia/dysplasia * Reflux nephrology * Polycystic kidney disease * Prune belly syndrome Inherited (3%) * Familial nephritis * Cystinosis * Primary oxalosis Acquired Inflammatory/immunologic (14%) * Focal segmental glomerulosclerosis * Systemic lupus erythematosus * Renal infarct * Chronic glomerulonephritis Infectious (4%) * Pyelonephritis * Hemolytic uremic syndrome Note: Adapted from NAPRTCS (2003).
Lorraine Flood spoke of her hopes as her daughter Zowiann, who suffers from Falconi's Cystinosis, met chart-topping opera star Katherine Jenkins yesterday.
Sinead Maguire, 10, suffers a rare metabolic disorder called cystinosis.
org 1,2,4,5,6,7,8,9 CYSTINOSIS See also: Kidney Disorders Cystinosis Foundation 2516 Stockbridge Dr.
All Cystinosis Research Foundation Donations Go to Research on Cystinosis, a Rare, Genetic Disease
Proceeds from the financing will be used to advance multiple gene therapies from Avrobio's proprietary lentiviral platform, including the company's lead gene therapy, AVR-RD-01, currently in Phase 1 for Fabry disease, as well as three additional gene therapies for other lysosomal storage disorders, Gaucher disease, cystinosis and Pompe disease.
Horizon Pharma plc announced the launch of Cystinosis United, an initiative created for people living with nephropathic cystinosis, a rare genetic metabolic disease that causes the amino acid cystine to accumulate in all organs of the body.