case_images: PMC10900173_01
case_images: PMC10900173_02
case_images: Family pedigree. Serum BChE levels were 76-170 U/L and extremely low (<2 U/L), respectively. P : proband;  : sister (affected person);  : nephew (affected person); HD: hemodialysis; PD: peritoneal dialysis; KT: kidney transplantation; N.D: no data; BChE: butyrylcholinesterase
case_images: cureus-0016-00000053153-i01.jpg
case_images: PMC10900173_02_cureus-0016-00000053153-i01.jpg
case_images: FIG1
case_images: The family pedigree is shown in Fig. 1.
case_images: DNA sequencing analysis. (a) DNA sequencing analysis confirmed homozygous (sister) and heterozygous (patient) missense mutations (1093G > A, leading to Gly365Arg). (b) Homozygous (sister) and heterozygous (patient) K-variants are also revealed (1615G > A, leading to Ala539Thr)
case_images: cureus-0016-00000053153-i02.jpg
case_images: PMC10900173_02_cureus-0016-00000053153-i02.jpg
case_images: FIG2
case_images: Thus, we suspected the sister of having hereditary BChE deficiency and performed DNA sequencing analysis, which revealed a homozygous missense mutation (1093G > A, leading to Gly365Arg) and a K-variant (1615G > A, leading to Ala539Thr) (Fig. 2a, 2b). DNA sequencing revealed that the man was heterozygous for the same mutation and a K-variant (Fig. 2a, 2b).