Cystinuria is an inherited autosomal, reoccurring disorder. It is a type of Aminoaciduria. It is caused in people by a genetic defect. It interferes with the person's ability to absorb amino acid. The amino acids are generally absorbed back into the bloodstream. The amino acid isn't soluble in urine. If it is not absorbed by the body, the amino acids would be accumulated inside the kidney and form crystalline stones or crystals. The symptoms include blood in urine, vomiting, fever, chills, discolored urine, pain in abdomen region and severe pain in neck and back areas. The symptoms would only occur if the stones are present inside the kidney. The stones generally occur more than once. The cystine stones can be prevented through adequate hydration and urinary alkalinization. The rock- hard stones get stuck in kidney, bladder or ureters and would cause extreme pain for the individual. Diagnosis is done to test whether the stones are made of cystine. Sometimes even genetic test is done. The cystinuria must be treated immediately in order to avoid pain. The treatment includes dietary changes, tablets, medications and even surgery for severe cases.
The treatment for Cystinuria begins by examining the patient history, condition and some tests are carried out to detect the presence and nature of the stones. The tests include genetic testing, urinalysis, intravenous pyelogram, abdominal imaging (MRI, CT scan and ultra sound). Through these tests, the doctor would be able to determine the size and nature of the stone and treat the patient accordingly. Based on it the treatment includes following things:
The symptoms are found in people between the age of 10 and 30 years. To get cystinuria, the person must inherit the defect from both the parents. Sometimes even infants get cystinuria. To undergo the operation, the patient must have large kidney stones. The surgery is generally done after the age of 20 years. Patients with stones in the upper portion of ureter can undergo the treatment.
Pregnant women cannot undergo the treatment or the surgery. Patients with high blood pressure or high blood sugar or urine sugar are advised to monitor their blood and urine sugar level and keep them under control, in order to undergo the surgery. People taking blood-thinning medications cannot opt for PCNL (nephrolithotomy) treatment. People who are over weight cannot undergo lithotripsy. Individuals who have blood clotting problems are usually advised to opt for medications or ureteroscopy. People who have on-going urinary infections are treated for their infections first, then advised to opt for surgery.
Some side-effects are observed after the treatment. Mild back pain and bladder irritation are some of the common side effects. The patient may get frequent urges to urinate. Blood in urine is also commonly observed in the patients. Another common problem is the discomfort of the skin closest to the skin, where the stone was targeted, as shock wave causes some uneasiness or pain in the skin. In complicated and rare cases, severe bleeding may occur. One in almost one lac surgery is known to affect or damage the kidney. In case any patient reports any other complexity after undergoing the treatment the patient is advised to consult the doctor immediately.
After the treatment, the patient much takes excess care of themselves. This is because the medications nor surgery provide a permanent solution. The cysteine would reoccur again in the near future. Only with age, some people find that the stones are not forming frequently. So, proper care must be taken to avoid or minimize the formation of stones. Even after surgery, the patient must undergo urine tests and scans at least every 2 years. The patient must opt for proper diet, drink loads of water and reduce intake of salt, junk, and salty food. The patient must not take calcium or vitamin-C supplement.
Depending on the size of cystine, the duration of treatment would vary. Most of the stones can be cleared in the single procedure. But if the stones are bigger in size and more complex, more than one procedure is needed to completely remove the stone. Most surgeries consist only of an hour or two. After the surgery, the patient is required to stay overnight in the hospital. Within a week, the person would be able to resume their daily activities. The medications must be taken properly and appropriate diet must be followed strictly for the next 6 months. For open surgery, the recovery period is 10 weeks.
The price of treatment varies depending on the hospital, doctors and the kind of operation. Cost of general ESWL (lithotripsy) ranges between 15,000 to 35,000 depending on the size and nature of the stone. Laser and holmium lithotripsy procedures cost around 50,000 to 80,000. Nephrolithotomy and ureteroscopy treatments cost around 75,000 to one lac rupees. Open surgery costs around 40,000 to 70,000 rupees.
Generally, the treatment does not provide permanent results. The stones mostly reoccur. The stones occur commonly in the people of age below 40 years. The stones occur less frequently with age. Stones that are formed between longer periods can be dissolved using tablets. If the stones form frequently, they cause a blockage in the kidney. This needs to be treated through surgery. If the stones are present for longer duration inside the body, they may cause an impact on kidney function. So, it is better to treat them, as soon as possible to avoid pain and kidney dysfunction. The surgery is undergone by the patient to break the larger stones or to remove them. The surgery does not assure that the stones formation can be prevented. No treatment is there at present, which can cure cystinuria completely.
If both the parents have cystinuria, there is 90% chance that their child would inherit it, as it is a genetic disease. It is hardly possible to prevent cystinuria in those people. But, at the initial stage, the person need not undergo surgery. There are many alternatives to the surgery. The person can avoid cystine formation by regulating the pH value of the body. This can be achieved through proper diet and reducing the intake of food with high acidic content. Medications can be taken to dissolve the stones in urine. Examples of oral medications include D- penicillamine, and alpha- mercaptopropionylglycine. Reducing the salt content in daily diet and drinking loads of water or liquid would also prevent the formation of cystine.