Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation

Authors

  • Funda Bastug Kayseri Education and Research Hospital, Department of Pediatric Nephrology, Kayseri, Turkey Author
  • Hulya Nalcacioglu Kayseri Education and Research Hospital, Department of Pediatric Nephrology, Kayseri, Turkey Author
  • Fatih Ozaltin Hacettepe University Medical Faculty, Department of Pediatric Nephrology and Nephrogenetic Unit, Ankara, Turkey Author
  • Emine Korkmaz Hacettepe University Medical Faculty, Department of Pediatric Nephrology and Nephrogenetic Unit, Ankara, Turkey Author
  • Sibel Yel Kayseri Education and Research Hospital, Department of Pediatric Nephrology, Kayseri, Turkey Author

Abstract

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.

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Author Biographies

  • Funda Bastug, Kayseri Education and Research Hospital, Department of Pediatric Nephrology, Kayseri, Turkey
    Pediatric Nephrology 
  • Hulya Nalcacioglu, Kayseri Education and Research Hospital, Department of Pediatric Nephrology, Kayseri, Turkey
    Pediatric Nephrology
  • Fatih Ozaltin, Hacettepe University Medical Faculty, Department of Pediatric Nephrology and Nephrogenetic Unit, Ankara, Turkey
    Department of Pediatric Nephrology and Nephrogenetic Unit
  • Emine Korkmaz, Hacettepe University Medical Faculty, Department of Pediatric Nephrology and Nephrogenetic Unit, Ankara, Turkey
    Nephrogenetic Unit
  • Sibel Yel, Kayseri Education and Research Hospital, Department of Pediatric Nephrology, Kayseri, Turkey
    Pediatric Nephrology

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Published

2018-01-23

Issue

Section

CASE REPORT | Kidney Diseases

How to Cite

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. (2018). Iranian Journal of Kidney Diseases, 12(1), 61-63. https://ijkd.org/index.php/ijkd/article/view/3505

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