In this Article

• What is cystinuria?
• How frequent is cystinuria?
• What is a transport defect?
• What causes cystinuria?
• What happens with cystine in the urine?
• What problem do the cystine stones cause?
• What happens with a urinary obstruction?
• What is the effect of urinary obstruction on the kidney?
• What are the signs and symptoms of cystinuria?
• What use is early diagnosis?
• How is cystinuria treated?
• What are the laboratory findings in cystinuria?
• How is cystinuria inherited?
• How long has cystinuria been known?
• Cystinuria At A Glance
• Cystinuria Glossary
• Cystinuria Index

How long has cystinuria been known?

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 At A Glance

• 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."

Suggested Reading by Our Doctors

• penicillamine, Cuprimine, Depen - Information on penicillamine (Cuprimine, Depen) a drug prescribed for the treatment of rheumatoid arthritis, Wilson's disease, lead poisoning, and the prevention of kidney stones in individual's with cystinuria.
• CT Scan (Computerized Axial Tomography) - CT Scan (Computerized Axial Tomography, CAT scan) is a procedure that assists in diagnosing tumors, fractures, bony structures, and infections in the organs and tissues of the body.
• Kidney Stones - Learn about kidney stones (renal calculi) symptoms and signs, diagnosis, treatment, prevention and causes. Discover the roles calcium and dehydration play in the formation of painful kidney stones.

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