- Cystinosis: Symptoms, Treatment Outlook - Cleveland Clinic
Cystinosis is a rare genetic condition that causes an amino acid called cystine to accumulate in your cells An excess of cystine in your cells can cause crystals to form that build up and then cause problems in your organs Cystinosis most often affects your kidneys and eyes
- Cystinosis | About the Disease | GARD - Genetic and Rare Diseases . . .
Cystinosis is a genetic condition present from birth that leads to the build-up of cystine crystals in the body This can impact all the organs and tissues, but mainly affects the kidneys and eyes
- Cystinosis - Wikipedia
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine [3] It is a genetic disorder that follows an autosomal recessive inheritance pattern
- Cystinosis 101
Cystinosis is a rare genetic, metabolic, lysosomal storage disease caused by mutations in the CTNS gene on chromosome 17p13 which results in an abnormal accumulation of the amino acid cystine in various organs and tissues of the body such as the kidneys, eyes, muscles, pancreas and brain
- Cystinosis: Symptoms, Causes, and Treatment - Healthgrades
Cystinosis is a rare genetic condition caused by the buildup of a substance called cystine This buildup can form crystals that damage organs, such as the eyes and kidneys
- Nephropathic Cystinosis | National Kidney Foundation
Nephropathic cystinosis is a rare disease that usually appears in infants and children at a young age It is a life-long condition, but available treatments, such as cysteamine therapy and kidney transplantation, have allowed people with the disease to live longer
- What Is Cystinosis? – Cystinosis Foundation UK
Cystinosis is a rare, genetic disease, which is diagnosed early in childhood, usually before the age of two It is autosomal recessive, which means that it is inherited when a child receives two copies of an abnormal gene, one copy from each parent
- Cystinosis — a review of disease pathogenesis, management . . . - Springer
There are three clinical forms of cystinosis: nephropathic cystinosis, juvenile cystinosis, and ocular cystinosis They are characterised by the severity of kidney involvement and the age of disease onset
|