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Question: My Son, almost two and a half, has just had blood results. His LFT was 'mildly elevated' and I was told to reduce Cystagon. He's on 95mg/kg/daily and I've been told to reduce to about 83mg/kg/daily. He had been tolerating Cystagon very well (cystine levels will be availbe in two weeks) but usually well below 1. His other meds are Potassium Citrate 8mls daily, potassium chloride 6mls daily, Sodium Bicarb 12mls daily, Phos Sandoz 1 and quarter tablet daily, one alpha vit d 0.1mg daily (meds divided into twice daily). Blood results were potassium 3.5 (3.5-5.5 range); Calcium 2.3; bicarbonate 24 (23-25 range); phosphate 1.67 (range up to 2). However, calcium in his urine was high so I have been told to stop one alpha. Meds are reducing also to Bicarbonate 7.5mls; Phosphate Sandoz three quarters tablet. He's going to soon have an ultra sound scan of liver and kidneys.


What generally are the reasons for an elevated liver function test result. Our doctor thinks it might be the toxicity of Cystagon. We do not like to reduce his Cystagon particularly below 90mg/kg/daily. We believed that we could go to the levels we were. He seemed to be doing well. What other reasons could there be for these LFT results and what other tests could be done to determine cause? He's fully tube fed on approx. 1000mls in 24 hours (1,500 cals). Each 100 mls contains 4.1 g of protein; 18.5g of carbohydrate. (The feed is Nutrini Extra).

 

Answer: Many cystinosis patients have mildly elevated liver function tests, and we presume this is due to the cystine accumulating there. The values are usually only about 1.5-2 times normal. We do not consider this related to the cysteamine. If the levels are only mildly elevated, it would not be important to pursue it aggressively.
You will get an indication that the cysteamine dose was not causing the elevated liver enzymes if they do not go down when the cysteamine was lowered.

Dr. William Gahl
Professor, National Institutes of Health

 

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Question: What is the long term effect on other organs when non compliance is an issue?

 

Answer: When noncompliance occurs, we see the natural history of cystinosis. That means loss of muscle strength, swallowing difficulty, diabetes, retinal blindness, central nervous system abnormalities, etc. It takes a long time, but eventually I expect at least one such complication to occur after 30 total years without cystine depletion.

Dr. William Gahl
Professor, National Institutes of Health

 

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Question: What is the recommended daily dose of prilosec for children with cystinosis (what was the dose used in Dr. Dohil's study)? Should it be given once daily or bid ? Has the study been published yet? If so in what journal. Thanks

 

Answer: The dose of Prilosec is age/weight related. A reasonable starting dose would be 1.3 mg/kg/day (in two divided doses) to a maximum of 10 mg twice daily in children under 10 years and 20mg twice daily for those over 10 years age. Prilosec should be prescribed by a physician who is experienced in using the drug in children. The manuscript has been submitted for publication. We will let you know in which journal it is finally accepted. Best wishes.

Dr. Ranjan Dohil
University of California, San Diego

 

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Question: I have a question regarding WBC cystine levels. I was under the impression that levels less then 1 nmol/mg protein was target but it seems from discussion with other parents pushing it to lower levels, if tolerated, is better? Our daughter is taking 200mg q6h and her last WBC cystine level was 0.81 nmol/mg protein. BSA is 0.495. She tolerates cystagon very well. Would you recommend increasing her dose and aiming for a lower WBC cystine level? I know there is not alot of research in this field and no one really knows what levels would be best, but what is your general recommendation to cystinotic patients presently.
Thank you.

 

Answer: I think that giving the maximum dosage for weight or surface area, and achieving better cystine depletion, is best for a patient who can tolerate the dose. This is only an opinion, and it is based upon the fact that a normal white cell cystine is less than 0.2 nmol half-cystine per mg protein, and that the cystine values of tissues such as the kidney may well be greater than that of the white cells.

Dr. William Gahl
Professor, National Institutes of Health

 

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Question: I lost 3 children to Cystinosis and my 4 surviving adult children would like to know if they are carriers. Is there any testing available and if so, where and how is it done. Thanks for your help. Please contact me by email.

 

Answer: You and your husband must both be carriers for cystinosis. That means that each child you have has a 25% chance of having cystinosis, a 50% chance of being a carrier and a 25% chance of neither having cystinosis nor of being a carrier. Since your four surviving children do not have cystinosis that eliminates the first possibility listed above. Thus, they each have 2 chances in 3 of being a carrier. Cystinosis is now known to be caused by an abnormality on chromosome 17. If both your and your husband's families originated in Great Britain, France, Germany or Scandinavia there is a 50% chance for each of you of having a particular mutation on that chromosome that can easily be identified. If you both have this particular mutation it would be relatively easy to see which, if any, of your children have the same mutation and are thus carriers. If one of you does not have this mutation, or if your husband is for some reason not available to give a blood sample, we are able to identify carriers about 90% of the time by doing other measurements. Unfortunately, We can only do this testing if the individuals come to San Diego and it is expensive.

Jerry A. Schneider, M.D.
Dean for Academic Affairs
School of Medicine
University of California, San Diego

 

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Question: My daughter was diagnosed with mono. What does this mean for someone who has had a transplant and who's immune system is suppressed? We are still waiting for an infectious disease doctor to decide how to treat her. But I have read on the internet that there is no treatment for mono and that it can cause death in someone like my daughter.

 

Answer: Mononucleosis is caused by Epstein-Barr virus which can cause an additional suppressive effect on the immune system, which can result in the immune system being more depressed at the time of the infection. If the amount of virus is a lot and missed for a long time then it can lead to a particular type of cancer- usually affecting the lymph nodes. This being said, transplant physicians can carefully monitor the viral burden, lessen it with drug treatment (gancyclovir is one of the best drugs sometimes for this) and titrate the immunosuppressive drugs to lower levels to allow recovery from the viral infection. Monitored carefully, this is not a fatal condition.

Minnie Sarwal, Ph.D.
Stanford University

 

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Question: My daughter has a few crystals in her eyes and doesn't appear to be photosensitive yet, when should she be started on the eye drops?

 

Answer: We think that cysteamine eyedrops should be started when symptoms of photophobia appear.

Dr. William Gahl
Professor, National Institutes of Health

 

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Question: Is there anything that can be used to decrease the gag reflex in cystinotic children? My daughter gags very easily on most foods which results in excessive vomiting?

 

Answer: I do not know of any way to reduce the gag reflex except to disguise the taste.

Dr. William Gahl
Professor, National Institutes of Health

 
 
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