title: Hematological manifestations of nephropathic cystinosis.
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.
authors.affiliation: Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD 21231-1000, USA. aemadi1@jhmi.edu
authors.forename: Ashkan
authors.initials: A
authors.lastname: Emadi
authors.forename: Kathleen H
authors.initials: KH
authors.lastname: Burns
authors.forename: Bradley
authors.initials: B
authors.lastname: Confer
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Borowitz
authors.forename: Michael B
authors.initials: MB
authors.lastname: Streiff
mesh_terms: D000328:Adult; D000961:Antilymphocyte Serum / Q000627:therapeutic use; D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology*; D003131:Combined Modality Therapy; D003460:Crystallization; D003543:Cysteamine / Q000008:administration & dosage / Q000627:therapeutic use; D003553:Cystine / Q000378:metabolism*; D003554:Cystinosis / Q000097:blood* / Q000150:complications / Q000188:drug therapy / Q000473:pathology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007676:Kidney Failure, Chronic / Q000097:blood / Q000209:etiology* / Q000601:surgery; D016030:Kidney Transplantation; D008264:Macrophages / Q000648:ultrastructure; D008297:Male; D010198:Pancytopenia / Q000097:blood / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology / Q000628:therapy; D011183:Postoperative Complications / Q000097:blood / Q000209:etiology* / Q000473:pathology; D013601:T-Lymphocytes
chemical_list: D000961:Antilymphocyte Serum; D007166:Immunosuppressive Agents; D003553:Cystine; D003543:Cysteamine