Cystinuria
Alternate Names : Cystine Stone Disease
Cystinuria is an inherited disease that causes a specific type of kidney stones.
What is going on in the body?
Cystine is one of the essential amino acids, which are the building blocks of protein. In people with cystinuria, a large amount of cystine is concentrated in the urine. The concentrated cystine leads to the formation of kidney stones.
What are the causes and risks of the disease?
Cystinuria is an autosomal recessive disease, which means that a person with the disease has inherited two copies of a defective gene. Cystinuria affects 1 in 10,000 people worldwide.
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