A 37-year-old man with cystinuria was seen in the nephrology clinic for routine follow-up. He had received a diagnosis of cystinuria at 1 year of age, when he had presented with nephrolithiasis and pyelonephritis; subsequent workup had shown elevated 24-hour cystine urinary excretion and homozygous variants in the gene SLC3A1. …
n engl j med 386;12 nejm.org March 24, 2022
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