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Cystinosis in Eastern Turkey.

Murat Doğan, Keziban Bulan, Sultan Kaba

    Journal of Pediatric Endocrinology & Metabolism : JPEM
    |June 9, 2016
    PubMed
    Summary

    Two CTNS gene mutations were identified in Turkish cystinosis patients. The p.E227E mutation is linked to severe kidney issues, while p.T7FX7 indicates a milder condition requiring distinct monitoring strategies.

    Area of Science:

    • Nephrology
    • Medical Genetics
    • Pediatrics

    Background:

    • Nephropathic cystinosis is a rare genetic disorder.
    • It is caused by mutations in the CTNS gene, affecting lysosomal cystine transport.
    • Early diagnosis and genetic characterization are crucial for management.

    Purpose of the Study:

    • To investigate CTNS gene mutations in Turkish patients with nephropathic cystinosis.
    • To describe the clinical spectrum and genotype-phenotype correlations.
    • To identify specific mutations prevalent in the East Anatolian region.

    Main Methods:

    • Retrospective analysis of clinical and laboratory data from 11 patients.
    • Molecular analysis of the CTNS gene using next-generation or Sanger sequencing.

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  • Correlation of identified mutations with clinical manifestations.

    • Main Results:

    • Eleven patients from nine families were identified with cystinosis.
    • Two distinct CTNS mutations were found: p.T7FX7 (c.18-21del4bp) in 3 patients and p.E227E (c.681 G>A) in 8 patients.
    • The p.E227E mutation was associated with a higher risk of renal insufficiency and failure, while p.T7FX7 correlated with a milder phenotype.

    Conclusions:

    • Two specific CTNS gene mutations, p.T7FX7 and p.E227E, were identified in Turkish cystinosis patients.
    • The homozygous p.E227E mutation necessitates close monitoring for chronic renal failure.
    • Metabolic alkalosis can occur in cystinosis, challenging initial diagnosis but not excluding the condition.