About Cystinuria
Cystinuria is an autosomal recessive disorder of renal tubular transport affecting the reabsorption of cystine and dibasic amino acids, resulting in abnormally high urinary cystine excretion and recurrent cystine kidney stone formation. Cystine stones are characteristically radiopaque, large, staghorn-forming, and resistant to extracorporeal shockwave lithotripsy, frequently requiring urological intervention. Chronic stone burden and obstructive nephropathy contribute to progressive renal impairment in many patients.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Cystinuria trials.
Urinary cystine quantification (24-hour urine cystine excretion) is the central biomarker for both diagnosis and trial eligibility; establish reliable baseline measurements.
Stone analysis confirming cystine composition, along with SLC3A1 or SLC7A9 genotyping, strengthens eligibility for genotype-specific studies.
Fluid intake and urinary pH are modifiable variables that affect stone risk; trials may specify minimum urine output targets as inclusion criteria or ask that current urine alkalinisation therapy be documented.
Patient Resources
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