What Is Cystinosis

If your child has been diagnosed with cystinosis please don't be alarmed by the below explanation and make sure you read the last paragraph entitled on a positive note

Cystinosis is a complex lysosomal storage disease in which the amino acid cystine is produced in the cells, but has no transporter out. Because of the defect in transportation, Cystine accumulates in the cells and forms crystals. These crystals damage the calls and if left untreated may kill the cells, leading to loss of renal function. This results in renal Fanconi syndrome, and similar loss in other tissues can account for thyroid problems, liver problems, muscle wastage, the short stature, retinopathy, and other features of the disease.

There are three types of cystinosis each with slightly different symptoms: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. Infants affected by nephropathic cystinosis initially show signs of poor growth and particular kidney problems (sometimes called renal Fanconi syndrome). The kidney problems lead to the loss of important minerals, salts, fluids, and other nutrients. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). ( some of these symptoms such as loss of minerals, increased urination, thirst and dehydration may continue in to adulthood if the affected person has not had a transplant or still has fanconi syndrome). 

By about age two, cystine crystals may also be present in the cornea. The buildup of these crystals in the eye causes an increased sensitivity to light (photophobia). Without treatment, children with cystinosis are likely to experience complete kidney failure by about age ten. Other signs and symptoms that may occur in untreated patients include muscle deterioration, blindness, inability to swallow, diabetes, and thyroid and nervous system problems.

Cystinosis affects approximately 1 in 100,000 to 200,000 newborns. There are only around 2,000 known individuals with cystinosis in the world. The incidence is higher in the province of Brittany, France, where the disorder affects 1 in 26,000 individuals.

TREATMENT

Cystagon

The only specific treatment for Cystinosis is cysteamine tablets and eye drops. It is the only drug that slows the progression of the disease by removing the cystine from the cells. In 1994, the new product Cystagon TM was made available in capsule form, however it has a very bad taste and smell. It may also cause side affects such as vomiting, diarrhea and Nausea In addition to cysteamine high intake of fluids and electrolytes to prevent excessive loss of water from the body (dehydration). Sodium bicarbonate, sodium citrate, and potassium citrate may be administered to maintain the normal electrolyte balance. Phosphates and vitamin D are also required to correct the impaired uptake of phosphate into the kidneys. Carnitine may help to replace muscular carnitine deficiency.

ON A POSITIVE NOTE

HOWEVER!!, these days with better understanding and earlier diagnosis, Cystinotics are able to lead a longer, fuller life. I am 27 and currently still have my own kidneys and my eyes are only just beginning to show more sensitivity to light ( but I have not done my eye drops as often as I should have. They have to stay in the fridge which makes it difficult they also may sting a bit and are sticky sometimes. New eye drops are being made and are already available in some country's. there is also a new cysteamine being made which is delay release and said to have less smell and be more stomachable. I have taken my medication since I can remember and I believe this is really important in keeping your kidneys for as long as possible it also prevents/delays other damage. If you read my about me page (home) you will see I went to school and collage and have a part time job. With new research if your child has just been diagnosed there are so many new treatments being researched that should be available in their life time. Oh and look up the cystinosis support pages on Facebook. Also come to the cystinosis conferences you will meet lots of lovely people and hear all about the new research :-)