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A new mutation in two siblings with cystinosis presenting with Bartter syndrome

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Abstract

Nephropathic cystinosis is a severe autosomal recessive inherited metabolic disease characterized by accumulation of free cystine in lysosomes. Cystinosis can lead to renal failure and multiorgan impairment. Only five cases of cystinosis with associated Bartter syndrome are reported in the literature, and no genetic evaluation has been reported. We describe two siblings with nephropathic cystinosis presenting with features of Bartter syndrome and their genetic pattern.

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Authors and Affiliations

  1. Department of Pediatrics, IRCCS Burlo Garofalo, University of Trieste, Italy

    Marco Pennesi, Federico Marchetti, Laura Travan, Marzia Lazzerini, Elena Neri & Alessandro Ventura

  2. Department of Child Health and Human Development, Department of Genetics, University of Trieste, Italy

    Sergio Crovella & Francesca Boaretto

  3. Clinica Pediatrica, IRCCS Burlo Garofolo, via dell’Istria 65/1, Trieste, Italy

    Marco Pennesi

Authors
  1. Marco Pennesi
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  2. Federico Marchetti
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  3. Sergio Crovella
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  4. Francesca Boaretto
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  5. Laura Travan
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  6. Marzia Lazzerini
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  7. Elena Neri
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  8. Alessandro Ventura
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Correspondence to Marco Pennesi.

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Pennesi, M., Marchetti, F., Crovella, S. et al. A new mutation in two siblings with cystinosis presenting with Bartter syndrome. Pediatr Nephrol 20, 217–219 (2005). https://doi.org/10.1007/s00467-004-1702-y

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  • DOI: https://doi.org/10.1007/s00467-004-1702-y

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