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Cystinuria
Alternate Names : Cystine Stone Disease
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What can be done to prevent the disease?
Nothing can be done to prevent cystinuria. Drinking large amounts of water helps reduce kidney stone formation. The water also helps stones pass through the urinary tract.
What are the long-term effects of the disease?
Frequent urinary tract infections may occur in someone with cystinuria. Obstruction of the urinary tract may result. A person cystinuria may develop kidney failure, which can shorten the person's lifespan.
What are the risks to others?
Parents who have had a child with cystinuria are at risk to have other children with this condition. One in 4 pregnancies for parents carrying this genetic disorder is expected to result in a child born with cystinuria. Since the gene is recessive, both parents must carry and pass on the defective gene in order for the child to have cystinuria. Genetic counseling may be useful for couples with a family history of the disease.
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Author: Rajnish K. Dhingra, MD Reviewer: Ronald Jorgenson, DDS, PhD, FACMG Date Reviewed: 07/01/01
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