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Cystinuria is genetic disorder which results in the formation of stones in the kidneys, urethra the urinary bladder and in some cases, the intestines. The stones are made of amino acids, majorly Cystine. This is a condition that is inherited and is an autosomal recessive disease. This means, the defective gene must be present and carried on from both the parents.
- The mutations in SLC3A1 and SLC7A9 genes leads to Cystinuria.
- The disease is attributed to a defect in the transport of the amino acids and their metabolism.
- These defective genes cause the prevention of reabsorption of positively charged Amino Acids like cystine.
- This leads to higher concentration of cystine in the urine.
- When the level of cystine in the urine increases gradually, the concentration of cystine leads to the formation of kidney stones.
Types Of Cystinuria
Cystinuria is classified into mainly three types.
- Type I Cystinuria: A defect in the amino acid transport mechanism in both kidneys and small intestine is present in Type I Cystinuria.
- Type II Cystinuria: In Type II Cystinuria, the transport mechanism is severely weakened in the kidneys and relatively lesser impairment in the small intestine.
- Type III Cystinuria: In the Type III Cystinuria, the amino acid transport mechanism is weakened in the kidneys, but the function in the small intestine is normal.
Symptoms Of Cystinuria
Cystinuria presents with the following symptoms in most cases
- Renal Colic
- A spasm like pain in the abdominal and groin area, moving from front to back is a typical presentation of Renal Colic. Patients with kidney stones present with renal colic.
- Other kinds of kidney stones usually take a very long time to form, but stones formed due to Cystinuria can present at a young age.
- In patients who suffer from Cystinuria, Renal colic pain presents at a younger age, indicating Cystinuria.
- Chronic Pain
- Patients suffering from Cystinuria also present with chronic back and abdominal pain.
- This can be a dull throb in the area in which the kidneys are present.
- This kind of pain wears a person down and is felt continually.
- This is a condition in which Red Blood Cells (RBCs) are present in the urine.
- This occurs due to the sharp edges of the crystal-like stones leaving scars and damaging organs in the excretory system.
- This is a condition in which the stones formed in the kidneys block the proper passage of urine and allows accumulation of fluid in the kidney.
- The kidney may become enlarged causing life threatening kidney complications.
Diagnosis Of Cystinuria
- Since stones formed by Cystinuria do not show up on imaging studies such as x-ray, CT an MRI scans, it will often be tough to spot the cystine stones. This is the reason Cystinuria can be tough to diagnose.
- However the imaging study known as Intravenous Pyelogram can be used to visualize cystine stones.
- A 24 hour urine sample is collected and tested for the levels of cystine in the urine and also to determine the presence of cystine crystals. A cyanide-nitroprusside test is the most definitive.
Treatment Of Cystinuria
The major goal of Cystinuria treatment is to relive pain and to prevent formation of more such stones. Since the patients with Cystinuria suffer from chronic pain, it leads to severe debilitation and sometimes may lead to depression.
- Pain Relievers are prescribed for reduction and management of pain.
- Patients suffering from Cystinuria are asked to increase their fluid intake.
- Initially the patient is asked to reduce their salt and protein intake.
- Medicines that dissolve cystine crystals are administered.
- If the above treatments do not show improvement in conditions, chelation therapy is done.
- If the stones have formed, extracorporeal shock wave lithotripsy (ESWL) is done to try and breakup the stones.
- ESWL usually shows lesser effectiveness as the cystine crystals are much harder.
- If ESWL fails, then a surgery is performed to remove the cystine stones. However, this is the last line of treatment unless there is an emergency condition.
- Drink lots of water to produce lots of urine. This will help to reduce the concentration of cystine in the urine.
- This high quantity of urine produced will also help to pass the stones quickly.
- Since the stones might form again even after a surgery, one must get regular checkups and screenings to monitor the formation and passage of stones.
Conclusion: Patients may become depressed due to chronic pain and related complications, but necessary treatment and counseling by a qualified medical professional will help overcome such depression. Cystinuria might not have a cure, but with proper pain management and appropriate treatment, one can life a comfortable and pain free life.
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