Cystinosis Life Expectancy?

A little girl called Lillie Sutcliffe is 5 and suffers from cystinosis, a rare disease in which her cells turn to crystal. The little girl must take a cocktail of drugs to prevent the amino acid cystine from building up inside her organs. The English girl is one of only about 2,000 people worldwide who have the disease.
What the life expectancy of the girl? Is she going to die soon?

asked by Albert in Drugs & Medicine | 12169 views | 11-14-2009 at 06:48 PM

Life expectancy for the infantile and juvenile forms of Cystinosis is during the affected individualís 20s to 30s.

Cystinosis is a metabolic disease in which the amino acid cystine, gets into the cells but has no transporter out. Because of the defect in transportation, the cell crystallizes causing early cell death. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain. With such a rare disease affecting such a small population, research money is scarce to nonexistent. And yet research on complicated diseases like cystinosis often lead to advancements in other rare diseases.

Cystinosis is an autosomal recessive genetic disease. This means that both parents are carriers of the abnormal gene that leads to this condition. The parents do not exhibit any of the symptoms of cystinosis. In such couples, the odds are that one-in-four of their children will have cystinosis. The gene for cystinosis, CTNS, was mapped to chromosome 17p13.

As proteins are degraded within the lysosomes of cells, the individual amino acids that make up the proteins are transported from the lysosome to the cellís cytoplasm via specific transporters. The transporter for cystine is defective in children with cystinosis and this defect causes the cystine to crystallize within tissue. The cystine content of the cell is 50-100 times the normal value.

answered by Charles | 11-14-2009 at 06:50 PM

Here is a link to more information about the genetics of Cystinosis that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

answered by s.gupta | 01-27-2010 at 07:17 AM

living with relatives suffering from cystinosis
My husband had 3 brothers with this disease 2 have past away currently one is in hospital he will be 41 Sept.20,2010. there mom is not healthy and is unable to deal with the situation we have been trying to research to get him better care, but every doctor we talk to has no idea of this disease. His brother Paul past away about 14 years ago at age 30, the last few years of his life the crystals attacked his throat muscle and he was on a feeding tube. Unfortunately we are seeing symptoms in the brother similar to Paul's final time with us. The boys kidney transplants were done at Children's Hospital of Los Angeles by Dr. Malich. Current brother has had 2 transplants last one was around 28-30 years ago. Any help or direction to a doctor who is familiar with this disease would be GREATLY appreciated.

Thank You, Mike Nesbitt 928-234-2499 or e-mail

answered by Guest | 05-21-2010 at 04:43 AM

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