Hematological manifestations of nephropathic cystinosis

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

Research output: Contribution to journalArticle

Abstract

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
Volume119
Issue number3
DOIs
StatePublished - Jun 2008

Fingerprint

Cystinosis
Bone Marrow Examination
Cystine
Bone Marrow
Lysosomal Storage Diseases
Pancytopenia
Histiocytes
Kidney Transplantation
Intercellular Signaling Peptides and Proteins
Therapeutics

Keywords

  • Bone marrow failure
  • Cysteamine
  • Cystinosis
  • Leukopenia

ASJC Scopus subject areas

  • Hematology

Cite this

Hematological manifestations of nephropathic cystinosis. / Emadi, Ashkan; Burns, Kathleen; Confer, Bradley; Borowitz, Michael J; Streiff, Michael B.

In: Acta Haematologica, Vol. 119, No. 3, 06.2008, p. 169-172.

Research output: Contribution to journalArticle

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