Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.1.1.69 (BMT)
 2,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Of the currently available options for the treatment of ADA deficiency, the treatment of choice remains transplantation of bone marrow from an HLA identical donor. When an HLA-identical donor is not available, haploidentical BMT or enzyme replacement needs to be considered and evaluated on an individual basis. Haploidentical BMT may be potentially curative, but this form of therapy is not without risks, especially in severely ill patients or in patients requiring cytoablation. The ability to utilize PEG-ADA even in ill patients, is certainly an advantage over haploidentical BMT. Polyethylene glycol-adenosine deaminase enzyme replacement usually entails a shorter time of hospitalization, but is very expensive for long-term treatment. The expense will increase as the patient requires higher doses of the enzyme replacement with increasing weight. Although PEG-ADA enzyme replacement therapy has been shown to be effective without significant risks to patients with SCIDS, there is increasing concern that this form of therapy may be jeopardized due to expense for long-term treatment in the current era of managed care and health care reforms. The use of PEG-ADA enzyme replacement is associated with decreased morbidity and mortality when compared with haploidentical BMT transplantation. There have been only two deaths among the 29 patients treated with PEG-ADA. In contrast, the 2-year survival for BMT in ADA deficient patients is quite variable ranging from 0% to 66%.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Management options: SCIDS with adenosine deaminase deficiency. 817 25

In this case report, we describe successful BMT with RIC in a patient with delayed-onset ADA deficiency. A three-yr-old Japanese boy was diagnosed with delayed-onset ADA deficiency because of recurrent bronchitis, bronchiectasia, and lymphopenia. In addition, autoimmune thyroiditis and neutropenia were present. At four yr of age, he underwent BMT with a RIC regimen, including busulfan and fludarabine, from an HLA-identical healthy sister. Engraftment after BMT was uneventful without GVHD. Decreased ADA levels in blood immediately increased following BMT, and the patient was disease-free 13 months after BMT. These results suggest that BMT with RIC may sufficiently restore immune regulation in delayed-onset ADA deficiency. A longer follow-up period is needed to confirm these observations.
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PMID:Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. 2280 42