Cystinuria - kidney stones?
I suffer from a rare kidney disorder known a cystinuria, which inhibits my ability to breakdown excessive amounts of cystine. If left untreated it leads to multiple cystine stones in the kidneys, which can be extremely problematic. However there is only one drug called thiola (tiopronin), which can control this properly. I now find myself in a situation whereby my pharmacy is no longer able to obtain the drug from the distributors. I donít know why they have stopped supplying this drug. Maybe its not cost effective as it is a rare disease? I would like to know if there is anything I can do to obtain this product or an equivalent? I will suffer badly if I canít obtain this drug.
Cystinuria is a rare condition. The term means that the urine contains excessive amounts of cystine, which is an amino acid. The abnormality is due to inheriting an abnormal gene that results in an error of amino acid transport, which in turn results in the defective re-absorption of cystine by the kidneys. When the amount of cystine in the urine increases beyond a certain point it crystallises. Over time the large number of crystals then coalesce, which can eventually lead to stone formation in the kidneys. Treatment for cystinuria is aimed at the prevention of stone formation since it is not possible to decrease the level of cystine excretion in the urine. It is usually recommended that people with cystinuria drink several pints of water per day in addition to their normal fluid intake. This helps to keep the urine dilute and helps to prevent crystal formation in the urine. It also helps to increase the degree of alkalinity of the urine though the use of sodium bicarbonate or acetazolamide. The logic behind this particular treatment is that cystine dissolves more easily in alkaline urine. Penicillamine is another treatment option because this also increases the solubility of cystine. I regret that I have no specific information for you regarding the availability of thiola. Perhaps the pharmacist might be able to put you in touch with the manufacturer who might be in a position to assist you further with your search for this product.