An autopsy case of rhabdomyolysis related to vegetamin and genetic analysis of the rhabdomyolysis-associated genes.
An autopsy case of rhabdomyolysis related to vegetamin and genetic analysis of the rhabdomyolysis-associated genes.
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DOI：
10.1016/j.jflm.2009.07.020
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发表时间：
2010
影响因子：
1.5
通讯作者：
Aya Matsusue;K. Hara;M. Kageura;M. Kashiwagi;Wang Lu;A. Ishigami;T. Gotohda;I. Tokunaga;
中科院分区：
文献类型：
--
作者：
Aya Matsusue;K. Hara;M. Kageura;M. Kashiwagi;Wang Lu;A. Ishigami;T. Gotohda;I. Tokunaga;
我们报告一个尸检案例，一名男子在过量服用植物素2天后死亡。尸检结果如下：腋窝和腹股沟皮肤的表皮已被浸泡。骨骼肌变色。尿素氮、肌酐和尿肌红蛋白浓度分别为1.95g/d、0.66g/d和1100 ng/m L。免疫组织化学显示，肌红蛋白在鲍曼囊、管腔和上皮处呈强阳性染色。8-OH-DG在肾小管上皮细胞中呈强阳性，胞核呈强阳性。肾小球内细胞和肾小管上皮细胞表达ORP-150。苯巴比妥、异丙嗪和氯丙嗪的浓度分别从治疗水平到中毒水平，从毒性到致死水平和毒性水平。他的死因被认为是植物素引起的横纹肌溶解。在对本研究对象的遗传分析中，在RYR1基因的三个热点区域存在两个杂合子沉默突变。在CPT II基因中，发现该受试者为外显子4 1203G>；A的氨基酸替换杂合子，导致368Val>；Ile氨基酸替换。未发现VLCAD基因和CYP2C19基因突变。本研究对象为CYP2D6*1和CYP2D6*2杂合子。
We report an autopsy case of a man who died 2days after taking an overdose of vegetamin. The autopsy findings were as follows: the epidermis on the axillary fossa and the inguinal skin had become macerated. Skeletal muscle was discolored. Concentrations of urea nitrogen, creatinine and urine myoglobin were 1.95g/day, 0.66g/day and 1100ng/mL, respectively. Immunohistochemically, myoglobin was strongly stained at the Bowman’s capsule, and tubular lumen and epithelium. 8-OH-dG was strongly stained in renal tubular epithelium in which cell nuclei were strongly stained. ORP-150 was observed in intraglomerular cells and renal tubular epithelium. The concentrations of phenobarbital, promethazine and chlorpromazine ranged from therapeutic to toxic levels, from toxic to lethal levels and toxic level, respectively. His cause of death was considered to be vegetamin-induced rhabdomyolysis. In genetic analysis of this subject, there were two heterozygous silent mutations in the three hot-spot regions in the RYR1 gene. In the CPT II gene, the subject was found to be heterozygous for an amino acid substitution in exon 4,1203G>A causing a368Val>Ile amino acid substitution. There was no mutation in the VLCAD gene or CYP2C19 gene. The subject was heterozygous for CYP2D6*1 and CYP2D6*2.