Clinical manifestation of Cystinuria

Cystinuria is a genetic disorder affecting the renal transport of cystine and other dibasic amino acids. Clinical manifestations include recurrent kidney stones, often formed by the accumulation of cystine crystals.

Patients may experience renal colic, hematuria (blood in urine), and urinary tract infections. The condition can lead to chronic kidney disease if not managed. Treatment involves increased fluid intake, dietary modifications, and medications to reduce cystine levels and prevent stone formation.

Cystinuria is primarily associated with defects in the transport proteins responsible for reabsorbing cystine in the kidneys, particularly SLC3A1 and SLC7A9 genes. 

Diagnosis involves analyzing urinary cystine levels and genetic testing to identify mutations in the responsible genes.

Treatment includes maintaining a high fluid intake to reduce cystine concentration in urine. Alkalinizing agents may be used to make cystine more soluble. Thiol-containing drugs like D-penicillamine or alpha-mercaptopropionylglycine can help prevent cystine stone formation. 


Regular monitoring and dietary adjustments are crucial in managing cystinuria and preventing complications like kidney stones.


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