Cystinosis

Cystinosis is a disease caused by abnormal accumulation of the amino acid cystine. This disease is the most common cause of Fanconi syndrome in the pediatric age group. Abnormal increase of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates caused by impairment of cells in renal tubules.
Nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis are three different types of Cystinosis. Kidney problems, muscle deterioration, blindness, inability to swallow, diabetes and nervous system problems are some major problem caused by Cystinosis in children and teenagers. It also affects the bones and growth of children.
‘Cysteamine’ is the best medicine for Cystinosis. The regular use of Cysteamine decreases cystine stored in lysosomes and correlates with conservation of renal function and improved growth. Sodium citrate, potassium and phosphorus supplements are also recommended to Cystinosis patient.
Cystinosis symptoms can be observed in the child of 3 to 18 months. Excessive urination, followed by poor growth is also the symptoms of this disease. By age 6 Kidney failures can be observed in it. If parents are carriers of an autosomal recessive trait then there is 25% risk of having a child with the disorder.
This disease can be found in a child out of 100,000 to 200,000 newborns. Approximately there are 2000 known cases of this disease. The disorder affects 1 in 26,000 individuals in the province of Brittany, France.