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  • Cystinosis

    Has anyone experienced kidney failure as a result of cystinosis.

    Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.[1] It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules are impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates.

    You can read more about it here:

    *Moderator - can you please move this thread to ( kidney diseases - on dialysis) I did not see that there were two sections, one for dialysis and the other non dialysis. thanks much..
    PD - 13 Years
    3 Transplants
    In-Center Hemo - 6 Months
    NxStage - Since April - 06
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  • #2
    I have fanconi syndrome but not caused by cystinosis or a genetic disorder. I had colon cancer , the treatment of which included radiation therapy. That damaged my kidneys and also caused me to develop monoclonal gammopathy, an immune disorder that may (1% chance per year) lead to the blood cancer , multiple myeloma.
    The monoclonal immune cells produced can block the reabsorption of electrolytes, sugars and water , by the proximal tubules.
    I have a GFR of 9 and am on incenter hemo-dialysis 3X/wk but have to take pottasium supplements as I simply cannot get enough from diet alone. I was on phosphate supplements as well but have gone off them as an increase in dairy seems to be enough.
    When I do a 24 hour urine test I usually produce between 3.7 to 4 litres (about a gallon) of urine.
    Last edited by JeffDS; 12-09-2012, 04:52 PM.
    Started in-center HD Nov 15/11
    Oct 2010 GFR at 9
    Fistula created Aug 2010 in preparation for dialysis
    Radiation caused ESRD diagnosed 2007 - GFR at 15
    Cancer free since 2001
    Rectal cancer 2001 - Permanent colostomy - chemo+radiation