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Cystinuria

Cystinuria

Regular price €19,00 EUR
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Cystinuria is a rare condition affecting the excretory system, caused by the accumulation of the amino acid cystine in the kidneys and bladder. Under physiological conditions, this molecule is reabsorbed by the bloodstream in the process of urine formation but, due to the gene mutations underlying this condition, the transporter protein responsible for its recovery is not functional: as a result, cystine will tend to accumulate in the urine and, in the case of very concentrated urine, to crystallize and form stones in the kidney and bladder. It is also possible that cystine joins calcium, forming larger aggregates capable of obstructing the urinary tract and causing infections.
Cystinuria is caused by mutations in the SLC3A1 and SLC7A9 genes encoding, as described above, for the proteins responsible for the reabsorption of cystine. Its mode of transmission is autosomal recessive and, if correctly managed, it has a favorable prognosis: renal failure, in fact, is a rather rare complication.

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    Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.

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