B Cell Development and Maturation
Q: What is the name of the process that generates diversity in antibody and T cell receptor genes?
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Finding cystine crystals in pediatric urine is highly significant as it suggests cystinuria, an autosomal recessive disorder of renal tubular transport of dibasic amino acids. Cystine crystals are hexagonal, flat, and often layered. Cystinuria leads to recurrent nephrolithiasis and can cause renal damage if untreated. Early diagnosis is crucial for management with hydration, alkalinization, and sometimes chelating agents. The crystals typically form in acidic urine. Their presence should prompt quantitative urine cystine measurement, genetic counseling, and family screening. Unlike in adults where other causes exist, in children cystine crystals strongly indicate inherited disorder.
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