Cystinuria info

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Cystinuria is an inborn error of amino acid transport that results in the defective absorption by the kidneys of the amino acid called cystine. The name means ''cystine in the urine.'' Description Cystine is an amino acid. Amino acids are organic compounds needed by the body to make proteins and for many normal functions. When the kidneys do not absorb cystine, this compound builds up in the urine.

When the amount of cystine in the urine exceeds its solubility (the greatest amount that can be dissolved), crystals form. As the amount of cystine continues to increase in the urine, the number of crystals also increases. When very large numbers of cystine crystals form, they clump together into what is called a stone. Causes and symptoms Cystinuria is a rare disease that occurs when people inherit an abnormal gene from their parents. This disease occurs in differing degrees of severity in people who have inherited either one or two abnormal genes. Humans have two copies of each gene. When both are abnormal, the condition is called homozygous for the disease. When one copy is normal and the other is abnormal, the condition is called heterozygous for the disease. Persons with one abnormal gene can have a milder form of cystinuria that rarely results in the formation of stones.

Severe cystinuria occurs when people are homozygous for the disease. For these individuals, the kidneys may excrete as much as 30 times the normal amount of cystine. Research has shown that this condition is caused by mutations on chromosome number two (humans have 23 pairs of chromosomes). A person who has inherited cystinuria may have other abnormal bodily functions. In addition to excess levels of the amino acid cystine, high amounts of the amino acids lysine, arginine, and ornithine are found in the urine. This condition indicates that these amino acids are not being reabsorbed by the body. When excess cystine crystals clump together to form a stone, the stone can block portions of the interior of the kidney or the tube (the ureter) that connects the kidney to the urinary bladder. These cystine stones can be painful, and depending upon where the stone becomes trapped, the pain can be felt in the lower back or the abdomen. Nausea and vomiting can also occur, and patients may sometimes feel the need to urinate often.

Cystine stones can also cause blood in the urine. When the urinary tract is blocked by a stone, urinary tract infections or kidney failure may result. Diagnosis Small stones (called ''silent'') often do not cause any symptoms, although they can be detected by an x ray. Large stones are often painful and easily noticed by the patient. Blood in the urine can also mean that a stone has formed. When the urine contains extremely high amounts of cystine, yellow-brown hexagonal crystals are visible when a sample is examined under the microscope.

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