Pronunciation: [sˌɪstɪnˈə͡ʊsɪs] (IPA) 
Cystinosis is a rare genetic metabolic disorder characterized by an abnormal buildup of the amino acid cystine in various organs and tissues throughout the body. The word "Cystinosis" is spelled with seven letters, and is pronounced /sɪsˈtɪnoʊsɪs/. The first syllable is pronounced "sis", rhyming with "this", followed by "tin", as in the metal, and "o" as in "go". The final syllable is pronounced "sis", just like the first one.
Cystinosis is a rare genetic disorder characterized by the accumulation of the amino acid cystine within the cells of various organs, leading to the formation of crystals that can cause damage over time. This condition is caused by a mutation in the CTNS gene, which is responsible for encoding a protein called cystinosin that helps transport cystine out of cells.
Individuals with cystinosis experience the buildup of cystine in multiple organs, particularly the kidneys, eyes, liver, muscles, pancreas, and brain. The kidneys are typically the most severely affected, leading to renal dysfunction and ultimately kidney failure if left untreated. Other symptoms may include poor growth and development, frequent urination, excessive thirst, muscle weakness, eye abnormalities, and deteriorating kidney function.
Cystinosis can be categorized into three major forms: infantile nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. Infantile nephropathic cystinosis is the most severe form and usually manifests within the first year of life, resulting in kidney failure. Intermediate cystinosis typically presents later in childhood or adolescence and may have a slower progression. Non-nephropathic or ocular cystinosis affects mainly the eyes and does not typically involve renal dysfunction.
Management of cystinosis involves lifelong treatment aimed at reducing the buildup of cystine, including the regular administration of cysteamine, a medication that helps decrease cystine levels. Additional treatments and monitoring may be required to address complications related to specific organs affected by cystinosis.
Overall, cystinosis is a rare genetic disorder characterized by the accumulation of cystine within various organs, primarily the kidneys, leading to multiple complications if not adequately managed.
The term "cystinosis" is derived from two components: "cystine" and "-osis".
"Cystine" refers to a naturally occurring amino acid called "cysteine". Amino acids are the building blocks of proteins, and cysteine is an important amino acid that contains a sulfur group. "Cystine" is formed by the oxidation of two cysteine molecules and plays a crucial role in various physiological processes.
The suffix "-osis" is a Greek word that denotes a pathological condition or disease. It is commonly used in medical terminology to indicate abnormality or disorder.
Therefore, the word "cystinosis" refers to a medical condition characterized by an abnormal accumulation of the cystine amino acid within the cells of the body.
