Screening of pseudocholinesterase by molecular biology: 52

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Excerpt

Mivacurium (Miv) and suxamethonium (Sux) are slowly hydrolysed by plasma cholinesterase (pCHe) in phenotypically abnormal patients (A) [1]. The purpose of this study was to characterize the pCHe genetic variants in patients with prolonged neuromuscular block (NMB) after Miv or Sux.
Methods: The enzymatic hydrolysis of butyrylthiocholine (pCHe) and its inhibition by Dibucaine (DN) were determined and the principal mutation (Asp 70 ⇐ Gly) was screened by PCR [1] in patients (n = 17) exhibiting prolonged NMB after Miv or Sux. Values are presented as median and extreme values.
Results: NMB was prolonged to 250 min (120-720) in 14 patients after Miv and to 90 min (70-140) in three patients after Sux. Molecular biology indicates that 10 patients are homozygous (AA) for the principal mutation, four patients are heterozygous (AU or AX) and three are UU. In all the AA patients pCHe was below normal values and DN below 55%. In three of the four heterozygous patients pCHe was markedly diminished, suggesting a double heterozygosity. Among the three UU only one had decreased pCHe suggesting another variant, while in the two other UU, the diagnosis of prolonged NMB was not retained. Table 1
Discussion: Conventional biology was capable of detecting all genotypically AA patients after prolonged NMB. Since there are many rare mutations that have been identified the need to develop a routine test by molecular biology remains to be determined.
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