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Long-term outcome of nephropathic cystinosis: a 20-year single-center experience

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Abstract

Nephropathic cystinosis (NC) is a severe disease that is complicated by early-onset chronic renal failure (CRF) and other complications related to cystine deposition in tissue. Since the 1980s, the prognosis of NC has dramatically improved after the introduction of cysteamine treatment. Limited data are available documenting improvement in prognosis. We reviewed our long-term data (follow-up 6.3–27.8 years) on 23 patients followed in the past 26 years. Overall, stage III CRF was reached at 10 years of age in >90% of patients, whereas >80% reached end-stage renal disease before the age of 14 years. Three patients died during the follow-up. Our analysis shows a clear improvement in renal outcome (p = 0.001) and linear growth (p = 0.04) in patients treated more recently. Improvement in the evolution of renal function was significantly associated with early initiation of cysteamine (p = 0.006), with the dose of cysteamine (p = 0.04), and with the use of angiotensin-converting enzyme inhibitors (p = 0.01). Nonrenal long-term complications are similar to previously reported data. Of note, 3/23 patients developed rare forms of primary tumors that were successfully treated. In conclusion, our experience shows a significant improvement in the renal and nonrenal complications of cystinosis over the past decades and highlights the importance of early diagnosis in order to initiate cysteamine as soon as possible.

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Authors and Affiliations

  1. Department of Nephrology and Urology, Division of Nephrology and Dialysis, Bambino Gesù Children’s Hospital and Research Institute, Piazza S. Onofrio 4, 00165, Rome, Italy

    Marcella Greco, Anna Taranta & Francesco Emma

  2. Department of Mother-Child and Biology-Genetics, University of Verona, Verona, Italy

    Milena Brugnara & Marco Zaffanello

  3. Department of Laboratory Medicine, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy

    Anna Pastore

Authors
  1. Marcella Greco
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  2. Milena Brugnara
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  3. Marco Zaffanello
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  4. Anna Taranta
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  5. Anna Pastore
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  6. Francesco Emma
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Correspondence to Marcella Greco.

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Greco, M., Brugnara, M., Zaffanello, M. et al. Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. Pediatr Nephrol 25, 2459–2467 (2010). https://doi.org/10.1007/s00467-010-1641-8

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  • DOI: https://doi.org/10.1007/s00467-010-1641-8

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