Gaucher disease
Alternative names:
glucocerebroside storage disease; GSDI
Treatment:
The traditional treatment of splenectomy
(removal of the spleen) has given way to intravenous infusion
of recombinant CGR (Cerezyme). Experimental approaches include
biphosphonates and gene therapy.
Expectations (prognosis):
- the infantile form of Gaucher disease may lead to early
death; most affected children die before the age of 5 years.
With the availability of recombinant enzyme, most patients
with the adult-chronic form can look forward to normal or
near normal life expectancy.
Complications:
- seizures
- anemia
- thrombocytopenia
- bone infarcations
Calling your health care provider:
Call your health care provider or a Comprehensive Gaucher
Center if you have family history of Gaucher disease. Screening
may be reasonable for individuals of appropriate ethnic groups
known to be at a higher risk of the disease.
References:
Charrow J, Esplin JA, Gribble TJ, Kaplan
P, Kolodny EH, Pastores GM, Scott CR, Wappner RS, Weinreb
NJ, Wisch JS Gaucher disease: recommendations on diagnosis,
evaluation, and monitoring. Arch Intern Med. 1998 Sep 14;158(16):1754-60.
M Levin Screening Jews and genes: A consideration
of ethics of genetic screening within the Jewish community.
Genetic Testing (3)2, 207-213, 1999
Mistry PK Gaucher's disease: a model for
modern management of a genetic disease J Hepatol. 1999;30
Suppl 1:1-5.
Updated Date: 06/22/00
Mark Levin, MD Co-Director of Hematology
and Oncology, Director of the Gaucher Treatment Center of
Brooklyn Brookdale University Hospital and Medical Center
Brooklyn, NY
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