抄録
A 64-year-old male victim of a traffic accident was admitted to our hospital. On admission, cholinesterase (ChE) (measured as pseudo-ChE) level was abnormally decreased to 59U/l (normal range 3600-7000U/l). There had been no exposure to substances which inhibit ChE activity such as organic phosphorus compounds. Among his relatives, a younger brother showed a similarly abnormally low ChE level. Other brothers and a few relatives had mild hypocholinesterasemia. Genetic analysis revealed a mutation from Gly (GGA) to Arg (CGA) at the exon 2-codon 365. The patient and his younger brother with hypocholinesterasemia had homozygotes, while one of his daughters had heterozygotes. In these cases, administration of suxamethonium chloride should be avoided. Furthermore, if patients with this disease had been intoxicated with organic phosphorus, it would be difficult to evaluate the severity of the poisoning by determination of plasma pseudo-ChE level. The essentially low ChE level may lead to the a wrong decision regarding the therapeutic modalities. Therefore, emergency physicians should recognize the presence of this disease.
