Cystinuriais a disorder inherited in an autosomal dominant/recessive pattern and characterized by reduced reabsorption of cystine, ornithine, lysine, and arginine in the proximal tubule of the kidney. Unlike other involved aminoacids, cystine has lower solubility, thereby resulting in a tendency to form calculi. There are also syndromic forms of cystinuria: 2p21 deletion syndrome and hypotonia-cystinuria syndrome (typical/atypical). As mentioned, disease
transmission can be autosomal recessive (type I, or A, phenotype) or dominant with incomplete penetrance (non-type I, or B, phenotype).
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