Gourt > Health > Conditions and Diseases > Rare Disorders > Cystinosis
Cystinosis is a hereditary disorder of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium ions and phosphates. The body accumulates the amino acid cystine within cells. Excess cystine forms crystals that can build up and damage cells. These crystals negatively affect many systems in the body, especially the kidneys and eyes.
Cause
It is caused by abnormal transport of the amino acid cystine from lysosomes of all tissues, resulting in a massive intra-lysosomal cystine accumulation. Via an as yet unknown mechanism, lysosomal cystine appears to amplify apoptosis such that cells die inappropriately, leading to loss of renal epithelial cells, accounting for the renal Fanconi syndrome, and simlar loss in other tissues can account for the short stature, retinopathy, and other features of the disease.
Symptoms
There are three distinct types of cystinosis each with slightly different symptoms: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. Infants affected by nephropathic cystinosis initially exhibit 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 loss of nutrients not only impairs growth, but may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about age two years, cystine crystals may be present in the cornea. The buildup of these crystals in the eye causes an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about age 10 years. Other signs and symptoms that may occur in untreated patients include muscle deterioration, blindness, inability to swallow, diabetes, and thyroid and nervous system problems. More on [ Cystinosis ]
Genetic Disorders
Genitourinary Disorders
Cornea and External Diseases - Cystinosis - Features photographs of an affected eye, information on clinical features and treatment.
Cystinosis Central - Information about this disorder, conferences, data for physicians, updates and links.
Meta Description: [ This is the OFFICIAL site for information on Cystinosis. ]
Cystinosis Clinical Resources - Portal features annotated links for health professionals.
Cystinosis Foundation - Includes brochures, FAQs, medical exchange, research, and a message forum as well as details about the organization and its events, conferences and fund raising.
Meta Description: [ Cystinosis Foundation was founded in 1983 and is an all volunteer, non-profit organization dedicated to providing services for those suffering from cystinosis ]
Cystinosis Research Foundation - Natalie's Wish is a non-profit organization. Their mission is to fund research to find better medications and ultimately a cure for this condition.
Meta Description: [ Home Page ]
Cystinosis Research Network - Information about the organization and their mission. Extensive database about the disease as well as support groups, research and links to other resources.
EyeRounds.org: Cystinosis - Doctors Andrew Doan and Andrew Lee describe the diagnosis of a young girl with the condition. Features information on the epidemiology, signs, symptoms and prescribed treatment.
The Cystinosis Foundation UK - Charity dedicated to assisting those with Cystinosis, their families, medical researchers and increasing the awareness of this condition.
Meta Description: [ The Cystinosis Foundation UK is a charity concerned with promoting awareness of Cystinosis and supporting both families and medical research within the United Kingdon. ]
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