CYSTINURIA Meaning and
Definition
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Cystinuria is a rare genetic disorder characterized by the presence of high levels of the amino acid cystine in the urine. It is caused by a defect in the transport system responsible for reabsorbing cystine in the kidneys, leading to its excessive excretion in the urine. This condition can result in the formation of cystine stones, also known as cystine calculi, which can obstruct the urinary tract and cause severe pain.
Individuals with cystinuria often experience recurrent episodes of kidney stones, which can cause symptoms such as back or abdominal pain, blood in the urine, and urinary tract infections. The formation of cystine stones can also lead to complications like kidney damage and chronic kidney disease if left untreated.
Cystinuria is a hereditary condition, meaning it is passed down from parents to their children through genetic mutations. It is typically inherited in an autosomal recessive manner, meaning both copies of the responsible gene must be mutated for the disorder to manifest.
Treatment for cystinuria focuses on preventing the formation of cystine stones and managing the symptoms associated with their presence. This may include measures such as increased fluid intake to promote urine dilution, dietary modifications to reduce cystine levels, and the use of medications to reduce cystine production or increase its solubility in urine. In some cases, surgical intervention may be necessary to remove existing stones or to address complications resulting from their presence. Regular monitoring and follow-up with a healthcare provider are essential for individuals with cystinuria to effectively manage their condition and minimize its impact on their health.
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The presence of cystin in the urine, usually associated with hepatic disease and jaundice.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
Common Misspellings for CYSTINURIA
Etymology of CYSTINURIA
The word "Cystinuria" has Greek origins. It is derived from the combination of two Greek words - "kystis" meaning "bladder" or "cyst" and "ouron" meaning "urine". The suffix "-ia" signifies a medical condition or disorder. Therefore, "Cystinuria" literally means a condition characterized by the presence of cystine in the urine.
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