Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Arch Pathol Lab Med. 2008 May;132(5):851-3. doi: 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2.

Gaucher disease: review of the literature.

Author information

  • 1Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, Loma Linda, CA 92350, USA. mchen@llu.edu

Abstract

We present a brief review of Gaucher disease, the most common lysosomal storage disease. Gaucher disease is a rare autosomal recessive disorder characterized by defective function of the catabolic enzyme beta-glucocerebrosidase, leading to an accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system, especially histiocytes in the spleen, lymph nodes, and bone marrow; Kupffer cells in the liver; osteoclasts in bone; microglia in the central nervous system; alveolar macrophages in the lungs; and histiocytes in the gastrointestinal tracts, genitourinary tracts, and the peritoneum. Clinical signs and symptoms include neurologic dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia, and thrombocytopenia. Enzyme replacement therapy with recombinant glucocerebrosidase is the mainstay of treatment for Gaucher disease, which became the first successfully managed lipid storage disease. Future treatments may include oral enzyme replacement and/or gene therapy interventions.

PMID:
18466035
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Allen Press, Inc.
    Loading ...
    Write to the Help Desk