In this Article
- Cystinuria facts
- 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?
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.
Medically reviewed by Rambod Rouhbakhsh, MD, MBA, FAAFP; American Board of Family Medicine
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