Cystinosis is a rare kidney disease and usually follow by Fanconi Syndrome my daughter is now 21 years old and just put on a transplant list she should of been past away by 9-10 yrs of age . Long road behind but a long road ahead. I would just like to have some feed back and open discussion to give my input of these issues and to learn more on them and new ones that arise also . Anything that has to do with the filtering , or wasting of the kidneys, cysteine crystals - and accumulation of ,transplant pro cons living or dead donors all are welcomed ...
Thanks hope to hear from you ...graebear
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. 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.
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