Tanabe Takahiro, Fukusaki Makoto, Terao Yoshiaki, Yamashita Kazunori, Sumikawa Koji, Mukaida Keiko, Ibarra Carlos A, Nishino Ichizo
Department of Anesthesia, Nagasaki Rosai Hospital, Sasebo, Japan.
J Anesth. 2008;22(1):70-3. doi: 10.1007/s00540-007-0575-1. Epub 2008 Feb 27.
Malignant hyperthermia (MH) is an autosomal dominant disorder of skeletal muscle calcium regulation, and the rate of calcium-induced calcium release (CICR), determined by using skinned fibers of skeletal muscle, has been employed as a diagnostic test for MH susceptibility in Japan. The ryanodine receptor (RYR1), encoding the major calcium-release channel in skeletal muscle sarcoplasmic reticulum, has been shown to be mutated in a number of MH pedigrees. We experienced the detection of accelerated CICR and/or an RYR1 mutation in a patient with an MH episode and his family. Accelerated CICR and an RYR1 mutation (c.14512C>G, p.L4838V) were found in the patient and his father. The MH-causative mutation (c.14512C>G, p.L4838V) was also found in his brother and his son (resulting in the diagnosis of MH without the CICR test), but the mutation was not found in his mother or two daughters. With the detection of the family-specific mutation in other family members, the diagnosis of MH was made without the invasive CICR test.
恶性高热（MH）是一种常染色体显性遗传的骨骼肌钙调节障碍疾病，在日本，利用骨骼肌去皮肤纤维测定的钙诱导钙释放（CICR）速率已被用作MH易感性的诊断试验。编码骨骼肌肌浆网中主要钙释放通道的兰尼碱受体（RYR1）已在多个MH家系中被证明发生了突变。我们在一名发生MH发作的患者及其家族中检测到了加速的CICR和/或RYR1突变。在该患者及其父亲中发现了加速的CICR和RYR1突变（c.14512C>G，p.L4838V）。在他的兄弟和儿子中也发现了MH致病突变（c.14512C>G，p.L4838V）（从而在未进行CICR试验的情况下诊断为MH），但在他的母亲和两个女儿中未发现该突变。随着在其他家庭成员中检测到家族特异性突变，在未进行侵入性CICR试验的情况下做出了MH的诊断。
