Hematological manifestations of nephropathic cystinosis

Ashkan Emadi, Kathleen H. Burns, Bradley Confer, Michael J. Borowitz, Michael B. Streiff

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Pancytopenia is an uncommon manifestation of cystinosis, a congenital lysosomal storage disease. We describe a 34-year-old patient with nephropathic cystinosis with multisystem involvement who developed progressive bone marrow failure after renal transplantation. Bone marrow examination demonstrated widespread deposition of cystine crystals in histiocytes and in the background. We review the literature on the hematologic manifestations of cystinosis and discuss the available treatment options for patients with bone marrow failure secondary to cystine accumulation. The availability of effective oral therapy and the limited activity of hematopoietic growth factors in these patients highlight the importance of bone marrow examination early in the evaluation of cystinosis patients with abnormal blood counts.

Original languageEnglish (US)
Pages (from-to)169-172
Number of pages4
JournalActa haematologica
Issue number3
StatePublished - Jun 2008


  • Bone marrow failure
  • Cysteamine
  • Cystinosis
  • Leukopenia

ASJC Scopus subject areas

  • Hematology


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