Help-no idea what happens now!

[julie]

Hi everyone,
MY name is Julie and i'm 26 and was just told on Monday that I have cystinuria. I have had no symptoms (that i know of??) and it was only discovered because I have a special needs little boy who has just started a new nursery. Its routine practice to test a urine sample from both the child and the parents and mines came back a bit suspect. I did the 24 hour sample and got the results on Monday which did confirm that i do have this disorder (if thats the correct word).
I went to my GP yesterday and he doesnt have a clue on how to treat this. I have to return on Monday morning to have various blood and urine samples taken and then return to the GP once the results are back. He's hopeful that he might, by then, have a better idea of what this means for me.
I guess what i was hpoing for from you guys was just some info on symptoms, treatments, required tests.........I guess i thought that this place was the best place to give me honest responses.
Please help me understand what i'm facing.
Thanks in advance,
Julie :confused:

[Holly]

I'm so sorry to hear about your cystinuria.:( Some people can have it but never make stones. So if you don't you're really lucky. The disease can still be tiring and fursterating, tho. I wish i knew of some treatements other than the drugs like Thiola, but docs don't know much our condition.

[CRYSTAL]

Good luck at the doctor's visit! I don't know what "symptons" a person with cystinuria would have other than passing kidney stones. Most of us are on medication to alkaline (raise the ph of) our urine, I believe. And some are on medications to try and prevent the formation of stones. We, as a group, have pondered the thought that many of us began forming stones around puberty so I'm hoping, for your sake, that since you've already made it through puberty and child birth without complications maybe you won't have any problems in this area?! I know this is a hereditary disease but ironically my 2 sisters do not have it - in fact, 1 of those 2, the vegetarian, has calcium stones instead! Just goes to show how unpredictible our body chemistry is!

[Matt Lewis]

Hi Julie. Thanks for taking the time to visit our forum!!

I am sorry to hear about your recent diagnosis, but given that you have had the disease programmed into your genetics since birth, think of this diagnosis as the best thing that could have happened! You now know about it, and have the very unique advantage of being at least one step ahead. Most people are diagnosed after they have received treatment for a kidney stone, which was analyzed and found to be composed of cystine. Often times this treatment fails, many times even, because the stone is not initially treated like a cystine stone. Knowing without any prior stone formation is something to be very happy about.

As far as things you can start doing right now:
1) Realize that although you have been diagnosed with a genetic disease, you are fortunate in that you have not and perhaps will not experience the symptoms that most cystinurics do (which is excessive cystine stone formation, usually marked by "flank" pain [an area of your lower side/back or pelvis], and blood in the urine. Smaller stones are frequently passed while larger stones may require treatment including surgical removal. Before you start worrying about that, though, please do read on)

2) There are different sub-types of cystinuria. You can think of them as 1) more and 2) less genetically severe. Now just because you havn't shown any signs of the disease does not automatically mean that you have the less severe form. People with this disease are known to handle both forms differently. For some, the "less severe" form gives them more trouble that average. For a few others, the "more severe" form gives them little to no trouble.

3) Look at your cystine count numbers. What are they? This will be the 1st benchmark you may want to modify your diet.

The long-standing preventative treatment for cystinurics (and anyone prone to kidney stones of any type) is simply to drink large quantities of water. The idea there is to dilute the substance that would otherwise form the stones. In your case, you are genetically disposed to forming cystine stones, where cystine (a very insoluble biological molecule) is not reabsorbed by your kidneys as it normally would be. The result is urine in the kidneys and bladder with an unusually large cystine concentration. Cystine, although poorly soluble, will remain in solution to some normal extent (just like sugar dissolved in water). However, unusually high concentrations of cystine cause it to "come out of solution". You can think of this as putting too much sugar in a cup of tea. Some of it "disappears" into solution, but past a certain point, it will stop doing this and sink to the bottom, sitting there in a solid form. In your kidneys and urinary tract, the excess cystine that cannot be dissolved clumps together to form stones. Therefore, the idea is to constantly be drinking large amounts of water to dissolve the excess amounts of cystine. Just like adding more tea to the cup would dissolve the rest of the solid sugar, adding more water to your urinary tract can dissolve cystine (or more importantly keep it from ever coming out of solution in the first place).

I have made an online calculator, found at http://www.cystinuria.org/calc.htm
That should help you in estimating what your target goals for water consumption should be. Just enter the amount of cystine found in your 24-hour exam and it will calculate for you the theoretical amount of fluid it would take to completely dissolve it.
So tip #1, hydration is KEY!

The second dietary modification you can make is, as another member mentioned above, to raise the pH of your urine. You can easily do this by eating more vegetables and less meat in your diet (as vegetables will raise your urines pH and meats will lower it). Without going into detail, a higher urine pH will dissolve more cystine than the same amount of urine at a lower pH. Lemon and other citrus juices, although acidic, are wonderful for having this good effect on your body’s pH.
Tip #2 is more veggies and lemonade... less meats and things like soda, coffee, etc.

For you, that might be all you need to keep ahead of this disease!! For more information on stone formation and prevention, see http://www.cystinuria.org/rockcandy.htm.

To address your other questions, the only test you should immediately talk to your doctor about is simply regular and frequent 24-hour urine collection, just to monitor that cystine level. That is simply for monitoring and prevention.
If you start to feel sick, excessively tired and sluggish, perhaps some of the flank pain i mentioned earlier or especially sharp severe pains in the same area, you might be experiencing symptoms of a kidney blockage due to a large stone having formed without your knowing. Blood in the urine is also a very common symptom. If you suspect that this is happening, you need to go to the hospital immediately for a special set of x-rays called an IVP. That will determine if in fact one of your kidneys is experiencing blockage. It is worth noting that it is this blockage, much more than the act of stone formation and passing that will damage the kidneys. Thus it is something to be very aware of, and not ignore if you begin to feel the symptoms mentioned above!!
At that point, your doctor would discuss a new set of tests with you to monitor kidney function, etc. If medications are ever prescribed, that again brings more tests. However, for the time being, those are not tests you should be concerned with. Simply keeping up on 24 hour collections and monitoring the cystine levels should be fine.

You can also monitor the pH of your urine if you care to do so with pH paper, obtainable through pharmacies, if you would like to keep tabs on your urine pH. Cystinurics generally shoot for a urine pH in the 7.0 to 8.0 range, higher (within reason) being better.

Well Julie, i apologies for my characteristic long-windedness, but hope to have provided you with at least some of the basic information you need to know. I'd like to stress that you are in a very good position, and with even the most minor "home remedy" methods of stone prevention (increased and consistent water intake along with keeping urine pH relatively high), you may never experience a stone. With that, i'd like to leave you with a good list of resources outside of this website. The first i would recommend is a hard read, but worth it in every aspect. If you need any help in understanding any jargon etc., please don't hesitate to contact me directly at Matthew.Lewis@cystinuria.org or ask one of the great members on our bulletin board!! The link for the article is here: http://www.emedicine.com/med/topic498.htm

In addition, i would read the information listed at http://www.cystinuria.com
especially the article at http://www.cystinuria.com/a22.php , all of which should be lighter reading.

Thanks again for posting; welcome to the group!!!
Kind Regards,
matt lewis