RESUMEN
Serum levels of butyrylcholinesterase (BChE) are commonly used to assess liver function. Its levels have been reported to be significantly lower in patients undergoing dialysis. To the best of our knowledge, this is the first report of hereditary heterozygous BChE deficiency in a patient undergoing dialysis. Medical staff involved in the care of patients with BChE deficiency should be aware of anesthetic usage, because prolonged neuromuscular paralysis following the administration of succinylcholine or mivacurium may occur. However, in the heterozygotes, BChE activity is not completely absent. Therefore, differentiating patients undergoing dialysis is challenging. A 52-year-old man underwent living-related kidney transplantation for focal segmental glomerulosclerosis at 22 years of age. As the renal function gradually worsened, the patient began to receive combined hemodialysis and peritoneal dialysis therapy. No problems with anesthesia were observed in past surgeries. The patient's BChE levels fluctuated between 76 and 170 U/L (reference range: 198-495 U/L); however, they had never been previously investigated. We suspected hereditary heterozygous BChE deficiency because the patient's sister was also diagnosed with it. DNA sequencing revealed a heterozygous missense mutation (Gly365Arg) and a K-variant (Ala539Thr). Patients on dialysis with low serum BChE levels often present with low albumin levels which may be overlooked as malnutrition. Thus, BChE deficiency should be suspected in patients on dialysis with unexplained low serum BChE levels. In the case of heterozygous BChE deficiency, the reference value is low, and continuous monitoring is crucial.
RESUMEN
OBJECTIVE: In order to clarify the interaction mechanism, the phenotype and abnormal gene loci of FXI, FXII, and PS were investigated in this study. METHODS: Chinese pedigree with hereditary combined deficiency of coagulation factor (F) XI, FXII, and PS was enrolled in our study. Activated partial thromboplastin time (APTT), partial thromboplastin time (PT), FXI:C, FXII:C, and protein S (PS):C were determined using the one-stage coagulation method. FXI:antigen (Ag), FXII:Ag, and PS:Ag were detected using enzyme-linked immunosorbent assay (ELISA). Exons and introns of the FXI, FXII, and PS genes were amplified by polymerase chain reaction (PCR), and gene sequencing results were analyzed using Chromas software. RESULTS: A deletion of two bases located in introns A-149 and-150 within the FXI gene of the proband, his father, wife, and both sons. A missense variant in exon 14 (GGT â AGT, Gly542Ser) within FXII of the proband, his parents, and both sons. Four variants in exon 4 within the PS gene of all members of the pedigree: GTT â GTG (Val46Val), CGC â CTC (Arg49Leu), CGT â CAT (Arg60His), and CAG â TAG (Gln61stop). CONCLUSIONS: None of the pedigree members showed a tendency for bleeding or thrombosis. Therefore, we speculated that the lack of coagulation factors counteracted the lack of PS, restoring the balance between the coagulation and anticoagulation systems. Another possible explanation is that these defects individually have only partial penetrance.