Cystinuria: Causes, description, Treatment

Pelvis | Urology | Cystinuria (Disease)

Cystinuria: Description

Cystinuria is a autosomal recessive disease which is inherited and its characterized by the formation of cystine stones in the kidneys, ureter, and bladder.

Small stones are passed in the urine. However, big stones remain in the kidney (nephrolithiasis) impairing the outflow of urine while medium size stones make their way from the kidney into the ureter and lodge there further blocking the flow of urine (urinary obstruction).

Symptoms of cystinuria are the same as a kidney stone and include unilateral flank pain, pelvic pain, groin pain, genital pain and blood in the urine.

Causes and Risk factors

Cystinuria occurs because the amino acid cysteine accumulates in the urine, where it can crystalize and form stones. This is a rare genetic disorder that affects only about 1 in 10,000 people.

Cystinuria is a cause of persistent kidney stones. It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine, and is one of many causes of kidney stones. If not treated properly, the disease could cause serious damage to the kidneys and surrounding organs, and in some rare cases death. The stones may be identified by a positive nitroprusside cyanide test. The crystals are usually hexagonal, translucent, white. When they are removed, the stones may be pink or yellow in color, but later they turn to a greenish color due to exposure to air.

Cystinuria: Treatment and Diagnosis

The best treatment for cystinuria includes medications to dissolve the stones and also lots of water. A low salt diet is helpful in reducing the concentration of cysteine in the urine. If the stones do not pass through the urine on their own then the patient would need surgery

Leave a Reply

Your email address will not be published.