Case Report

Hematological Manifestations of Nephropathic Cystinosis
Ashkan Emadi^a, Kathleen H. Burns^b, Bradley Confer^d, Michael J. Borowitz^b, Michael B. Streiff^c

Departments of
^aOncology, Sidney Kimmel Comprehensive Cancer Center,
^bPathology, and
^cMedicine, Division of Hematology, Johns Hopkins University, Baltimore, Md., and
^dLake Erie College of Osteopathic Medicine, Erie, Pa., USA

Address of Corresponding Author

Acta Haematol 2008;119:169-172 (DOI: 10.1159/000134222)

  Key Words

• Bone marrow failure
• Cysteamine
• Cystinosis
• Leukopenia

  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.

Copyright © 2008 S. Karger AG, Basel

  Author Contacts

Ashkan Emadi, MD, PhD
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins Hospital
The Bunting/Blaustein Cancer Research Building
1650 Orleans Street, Suite 191, Baltimore, MD 21231-1000 (USA)
Tel. +1 410 614 4459, Fax +1 410 955 0125, E-Mail aemadi1@jhmi.edu

  Article Information

Received: February 2, 2008
Accepted: March 10, 2008
Published online: May 21, 2008
Number of Print Pages : 4
Number of Figures : 2, Number of Tables : 0, Number of References : 26