Gaucher's disease

Article Abstract:

Gaucher's disease is an inborn error of metabolism. The disorder results when an individual inherits defective gene for the enzyme glucocerebrosidase from both parents. This enzyme catalyzes the metabolic breakdown of sugar-containing fatty molecules called glycolipids. Many physicians regard Gaucher's disease as a rare and untreatable disorder. However, this is not the case. Fortunately, what is rare is the more serious form of the disease. Gaucher's disease is, in fact, quite common in its more mild forms, especially among Jewish populations. The author provides a review of the genetics, clinical manifestations, current treatments, and future treatment prospects for Gaucher's disease. Genetic studies indicate that the frequency of the one particular mutant Gaucher's disease gene among Jewish people is about 3.5 percent. This would result in about 1 in 835 Jewish people having Gaucher's disease; the true rate is higher, and one survey of blood donors found a rate of 2 cases in 593 blood donors. Ninety-nine percent of cases are type 1, in which the brain is not involved; often, the individual seems healthy and the disorder is found when the patient is examined for an unrelated complaint. The brain is involved in types 2 and 3 Gaucher's disease, and newborn babies with type 2 Gaucher's disease often die at birth. In type 2 cases, death occurs within 18 months. In type 3 cases, the neurological symptoms do not appear until the juvenile years, and disease progression is slower. Among the patients with type 1 disease, the more common symptoms involve the bones. The disease causes death of bone tissue and fractures. It has proved possible to administer doses of active enzyme to treat cases of Gaucher's disease. Chemically modified enzymes have proved particularly effective. However, this treatment may cost as much as $500,000 per year. In the future, it may become possible to transfer normal enzyme genes into macrophages which circulate in the blood of these patients. This gene transfer would then permit the patient's cells to manufacturer active enzyme. (Consumer Summary produced by Reliance Medical Information, Inc.)

Physiological aspects, Lipid metabolism disorders, Metabolism, Inborn errors of, Inborn errors of metabolism

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Lasting remission in hairy-cell leukemia induced by a single infusion of 2-chlorodeoxyadenosine

Article Abstract:

Hairy cell leukemia is a low-grade B-cell tumor. B cells are a type of white blood cell that produce antibodies to foreign substances. Since 2-chlorodeoxyadenosine, a simple purine nucleoside, has been shown to be effective against chronic lymphocytic leukemia, another B-cell neoplasm, as well as in cases of non-Hodgkin's lymphoma, the drug was tried in the treatment of 12 patients with hairy-cell leukemia. The patients received 0.1 milligrams per kilogram of body weight daily in a continuous infusion lasting seven days. All 12 patients responded to the treatment, 11 completely and 1 partially. None of the 11 patients has experienced a relapse in follow-ups ranging from 7 to 46 months, with a median of 15.5 months. These successful results compare favorably with all other treatments for hairy-cell leukemia. Serious bone marrow suppression is the dose-limiting side effect, and is not seen at the dose used in this study to produce complete remissions. The drug does not produce the spectrum of side effects seen with deoxycoformycin, which has achieved complete remission rates ranging from 30 to 90 percent in previous studies. Further studies will directly compare the effectiveness and toxicity of 2-chlorodeoxyadenosine and deoxycoformycin; these preliminary results suggest that 2-chlorodeoxyadenosine may be the most effective agent in the treatment of hairy-cell leukemia. Although 2-chlorodeoxyadenosine is not yet available commercially, its ease of synthesis suggests that it should be simple and inexpensive to prepare in large quantities. (Consumer Summary produced by Reliance Medical Information, Inc.)

Research, Antineoplastic agents, Cancer, Chemotherapy, Leukemia, Hairy cell, Hairy cell leukemia

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A less costly regimen of alglucerase to treat Gaucher's disease

Article Abstract:

Reducing the dosage of alglucerase and increasing the frequency of administration dramatically cuts the cost of treating Gaucher's disease while maintaining therapeutic effectiveness. Gaucher's disease is a fat storage disease caused by a lack of the enzyme glucocerebrosidase. Enzyme-replacement therapy with alglucerase, while effective, is very expensive, costing the average patient over $380,000 a year. Currently, the recommended dosage of alglucerase is 60 units per kilogram of body weight every two weeks. Fourteen patients with moderately severe to severe cases of Gaucher's disease received 30 units of alglucerase per kilogram per month split up into three to seven doses a week. This alteration in dosage proved just as effective as the recommended course of therapy but would cost the average patient $100,000 a year.

Drug therapy

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