Cystinuria (cont.)

In 1810 Wollaston found a yellow bladder stone composed of an unusual substance which he named cystic oxide since it came from the bladder (Greek kystis = bladder). Analysis showed it to be an amino acid. Thus, the bladder gave its name not only to the amino acid cystine but also to the disease cystinuria.

In 1908 Sir Archibald Garrod first put forth the concept of inborn errors of metabolism. The 4 inborn errors of metabolism that Garrod considered were albinism, alkaptonuria, pentosuria, and cystinuria.

• Cystinuria is a relatively common inherited disorder.
• The disorder is due to a defect in the transport of amino acids including one called cystine.
• Cystinuria features too much cystine in the urine.
• Cystine is highly insoluble, precipitates out of solution and forms stones in the urine.
• All the signs and symptoms of cystinuria are due to the stones.
• The stones cause blood in the urine, pain, and obstruction and infection of the urinary tract.
• The foremost aim of treatment is to prevent the formation of cystine stones.
• Cystine stones can often be dissolved and new ones prevented by a high fluid intake.
• People with cystinuria should understand that "for them, water is a necessary drug."

Last Editorial Review: 4/15/2002

Source: MedicineNet.com
http://www.medicinenet.com/cystinuria/article.htm