Cystinuria

Cystinuria is an inherited metabolic disorder characterized by defective transepithelial transport of cystine and other dibasic amino acids—specifically ornithine, lysine, and arginine—across the proximal renal tubule and the small intestine Driven by pathogenic variants in the *SLC3A1* or *SLC7A9* genes, the impaired reabsorption leads to high urinary concentrations of cystine Because cystine has poor solubility in normal acidic urine, it precipitates into crystals and forms recurrent calculi w...

Cystinuria is an inherited metabolic disorder characterized by defective transepithelial transport of cystine and other dibasic amino acids—specifically ornithine, lysine, and arginine—across the proximal renal tubule and the small intestine

Driven by pathogenic variants in the *SLC3A1* or *SLC7A9* genes, the impaired reabsorption leads to high urinary concentrations of cystine Clinical manifestations typically begin in childhood or early adulthood and commonly include renal colic, hematuria, recurrent urinary tract infections, and potential urinary tract obstruction that may lead to progressive chronic kidney disease

Because cystine has poor solubility in normal acidic urine, it precipitates into crystals and forms recurrent calculi within the renal pelvis, ureters, or bladder

Clinical manifestations typically begin in childhood or early adulthood and commonly include renal colic, hematuria, recurrent urinary tract infections, and potential urinary tract obstruction that may lead to progressive chronic kidney disease

Clinical manifestations typically begin in childhood or early adulthood and commonly include renal colic, hematuria, recurrent urinary tract infections, and potential urinary tract obstruction that may lead to progressive chronic kidney disease