Cystinuria

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Cystinuria

Cystinuria (pronounced: sis-tin-yoo-ree-uh) is a rare inherited disorder that causes a buildup of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, bladder, and urethra.

Etymology

The term "Cystinuria" is derived from the Greek words "kystis" meaning bladder and "ouron" meaning urine. It was first described in the medical literature in the 19th century.

Definition

Cystinuria is characterized by the abnormal transport of four specific amino acids (cystine, ornithine, lysine, and arginine) in the kidneys and intestines. The most clinically significant of these is cystine, as it is poorly soluble in urine and can form stones in the urinary tract.

Symptoms

Symptoms of Cystinuria can vary greatly from person to person. Some individuals may remain symptom-free for their entire lives, while others may experience frequent kidney stone attacks. Symptoms can include blood in the urine, flank pain, frequent urination, and urinary tract infections.

Diagnosis

Diagnosis of Cystinuria is typically made through a urine test, which can detect high levels of cystine. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for Cystinuria is primarily aimed at preventing the formation of cystine stones. This can include increasing fluid intake, dietary modifications, and medications to reduce cystine levels in the urine. In some cases, surgical intervention may be necessary to remove large stones.

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