What will happen to me ?
It is important to emphasise that people with cystinuria should lead normal lives - the picture to the right shows a cystinuric patient doing a sponsored abseil down a 30 storey building for charity! It is however necessary to take certain precautions - such as drinking fluids, taking prescribed medication and regular check-ups to prevent any complications.
The pattern of disease in cystinuria is very variable. Often patients have had kidney stones for about 2 years before diagnosis, which is usually made after some form of surgery. Some people will then only form very occasional stones whereas others have frequent stone episodes. We often see that patients form recurrent stones frequently for a while (especially at times of stress) but then can have long periods where they remain stone free.
It is important that patients are reviewed regularly by a urologist or nephrologist with an interest in stone disease. The timings of this will depend on how severely affected you are with stone formation. Regular monitoring of the kidneys for evidence of new stones is important to try and identify (and treat) them while they are small. The simplest way of doing this is with an x-ray (KUB) although cystine stones are notoriously difficult to see on x-ray and so ultrasound scanning may be a better method. The best way of identifying stones is with CT scanning - although as this involves a significant radiation dose we only use these for patients presenting with stones and not for monitoring.
You will probably be asked to maintain a high intake of fluids and this should be life long. There is also some evidence that modifying factors in your diet can help (see section: Diet - What should I eat?). If you have had recurrent stones, especially if they were in a period close together, then it maybe recommended that you take some medications to try and reduce stones forming (see section: Treatment of Stones). It is also important that either your GP or hospital doctor regularly monitors your blood pressure and kidney function. This is because repeated episodes of stones can cause some deterioration in kidney function. It is of particular importance if you have other diseases like hypertension (high blood pressure), diabetes or only one kidney. When (or if) you do get symptoms of further stones or they are found routinely on imaging, then it is important to have prompt treatment of the stones to prevent them from getting larger and also to minimise any complications from them.