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[Cystinolysinuric lithiasis]

L Callís, E Castelló, E Vilaplana

    Boletin Medico Del Hospital Infantil De Mexico
    |September 1, 1977
    PubMed
    Summary

    Cystinuria, a genetic disorder, causes excessive cystine and dibasic amino acid excretion. This study identified cystine-lysinuric lithiasis in six children presenting with abdominal pain and urinary stones.

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    Area of Science:

    • Nephrology
    • Medical Genetics
    • Pediatric Urology

    Context:

    • Cystinuria is a rare inherited metabolic disorder.
    • It leads to the formation of cystine and dibasic amino acid stones in the urinary tract.
    • Diagnosis often relies on identifying characteristic amino acid excretion patterns.

    Purpose:

    • To report the clinical presentation and diagnostic findings in a cohort of children with cystinuria.
    • To highlight the diagnostic utility of amino acid excretion studies in pediatric patients.
    • To investigate the association between cystinuria and urinary lithiasis in children.

    Summary:

    • This study analyzed six children with abdominal pain and/or hematuria, revealing radio-opaque lithiasis in five and bladder stones in one.
    • Urinary amino acid analysis showed increased cystine excretion and impaired tubular reabsorption in all patients.
    • The diagnosis of cystine-lysinuric lithiasis was confirmed, with lysine being frequently affected alongside cystine.

    Impact:

    • This case series underscores the importance of considering cystinuria in pediatric patients with unexplained abdominal pain and urinary stones.
    • Early diagnosis through amino acid analysis can facilitate timely management and prevent complications.
    • Understanding the specific amino acid abnormalities aids in tailoring treatment strategies for cystinuria patients.

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