Diseases Diseases

What Is Cystinuria


Introduction of Cystinuria:
Cystinuria denotes the pathological condition in which urine of the patient has cystine found in it by laboratory assessment which is indirectly because of the presence of cysteine stones in kidney. Cystinuria is a condition that gets passed down in families with kidney stones made up of an amino acid called cysteine. These stone can get formed in the kidney, ureter, and bladder.


Causes, incidence, and risk factors of cystinuria:
You have symptoms of cystinuria; you must have inherited the faulty gene from both of your parents! This is the simple rule that goes on with the idea of genetics of cystinuria. Cystinuria is caused and detected by excess of an amino acid called cystine in the urine. In kidneys, most of the cystine normally dissolves and goes back to blood. In patients of cystinuria there is a genetic defect that interferes with this normal physiology. Eventually the level of cysteine builds up in the urine and forms stones or sometime crystals, which get stuck anywhere in the way from kidneys, ureters, to bladder. About one in every 10,000 people has cystinuria and this is alarming.


Symptoms, signs and tests of cystinuria:

Cystinuria is most commonly seen in age of 40s. The symptoms are: Flank pain or in side or back of flank, it’s mostly felt on one side. Pain is severe and cystinuria cause pains like never before and may get worse over time. Pain may move in the pelvis, groin, genitals, or between the upper abdomens and back, alternatively. First presentation that gets this disorder diagnosed is kidney stones. Laboratory testing may show the stones morphology and details. Tests to detect stones and confirm the diagnosis of cystinuria includes: 24-hour urine collection and examination. Abdominal imaging (CT scan, MRI, or ultrasound), Intravenous pyelo-gram (IVP) scan of kidney, urinary bladder and ureter is done.

Tips and comments

Treatment of cystinuria:

Treatment provided for cystinuria is supportive and base on symptoms and prevention from stone formation. Severe symptoms should be admitted to a hospital and tips to pre-treatment involve increasing fluid intake, especially water, to produce larger amounts of urine. Drink at least 6 - 8 glasses per day. In some cases, Intravenous fluids may need to be given. Medications are prescribed to dissolve the stones.in cystinuria patient is restricted on salt free diet. Pain relievers are given as per needed. Small stones get passed through the urine on their own. Larger stones need treatments or may be surgery.

Prognosis, complications and prevention of cystinuria:

Cystinuria may become a chronic, lifelong condition. Stones commonly form again and again. But cystinuria rarely results in kidney failure, and no other organs get affected. Stones may cause bladder injury or in Kidney injury. More chances of kidney infection and ureteral obstruction with frequent urinary tract infections are seen. Prevention for cystinuria is not yet known to mankind. Any person with a known history of stones in the urinary tract should drink plenty of fluids to regularly produce a high amount of urine. This will relieve the symptoms.

By Ali Javed, published at 03/16/2012
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