Definition:
Cystinuria is an type inherited metabolic disorder, where the natural reabsorption and filtration of amino acid, cystine, lysine and aginine by the patient's kidney are defective. This would cause the urine to contain elevated levels of cystine that causes the formation of kidney stones. This medical condition account to about 1% of kidney stones and usually occurs to 1 per every 7,000 people and are more common among Jews.
Diagnosis:
Most often, cystinuria is typically diagnosed when the patient is detected to have cystine kidney stone, which often shows in the urinalysis. Abdominal x-rays, intravenous pyelogram and renal ultrasound procedures are also done to confirm diagnosis.
Treatment:
The primary treatment for cystinuria is focused on the kidney stone formation prevention. Patients are asked to drink large amounts of liquid such as water and citrus to dilute stones and reduce acidity. For medications, Penicillamine, alpha, captopril, mercaptopropionylglycine or bucillamine may be prescribed. For severe cases, kidney surgery may be required as well as change in diet.
Symptoms and Signs:
Generally, the sole symptom of cystinuria is the formation of cystine kidney stones than would often recur all throughout a person's lifetime. This condition may also be associated with urinary tract infections, high blood pressure, kidney insufficiency or damage.
Causes:
As discussed cystinuria is caused by a metabolic disorder that is inherited and greatly affects the patient's kidney.
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