Definitions for cystinosis
cysti·nosis

WiktionaryRate this definition:0.0 / 0 votes

1. cystinosisnoun

   A disorder caused by abnormal metabolism of cystine

WikipediaRate this definition:0.0 / 0 votes

1. Cystinosis

   Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. It is a genetic disorder that follows an autosomal recessive inheritance pattern. It is a rare autosomal recessive disorder resulting from accumulation of free cystine in lysosomes, eventually leading to intracellular crystal formation throughout the body. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules is impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates. Cystinosis was the first documented genetic disease belonging to the group of lysosomal storage disease disorders. Cystinosis is caused by mutations in the CTNS gene that codes for cystinosin, the lysosomal membrane-specific transporter for cystine. Intracellular metabolism of cystine, as it happens with all amino acids, requires its transport across the cell membrane. After degradation of endocytosed protein to cystine within lysosomes, it is normally transported to the cytosol. But if there is a defect in the carrier protein, cystine is accumulated in lysosomes. As cystine is highly insoluble, when its concentration in tissue lysosomes increases, its solubility is immediately exceeded and crystalline precipitates are formed in almost all organs and tissues.However, the progression of the disease is not related to the presence of crystals in target tissues. Although tissue damage might depend on cystine accumulation, the mechanisms of tissue damage are not fully understood. Increased intracellular cystine profoundly disturbs cellular oxidative metabolism and glutathione status, leading to altered mitochondrial energy metabolism, autophagy, and apoptosis.Cystinosis is usually treated with cysteamine, which is prescribed to decrease intralysosomal cystine accumulation. However, the discovery of new pathogenic mechanisms and the development of an animal model of the disease may open possibilities for the development of new treatment modalities to improve long-term prognosis.

WikidataRate this definition:0.0 / 0 votes

1. Cystinosis

   Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules are impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Cystinosis

   A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.

How to pronounce cystinosis?

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Numerology

1. Chaldean Numerology

   The numerical value of cystinosis in Chaldean Numerology is: 4

2. Pythagorean Numerology

   The numerical value of cystinosis in Pythagorean Numerology is: 8

Examples of cystinosis in a Sentence

1. Paul Grimm:

   I have one that has graduated from high school who has normal kidney function, so one of the interesting things we hope to see at one point in the future is adding cystinosis to the tests done on a bloodspot.

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References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Cystinosis
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Cystinosis
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=cystinosis