Malignant hyperthermia in a 16-day-old infant with congenital diaphragmatic hernia: a case report
Malignant hyperthermia in a 16-day-old infant with congenital diaphragmatic hernia: a case report
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DOI：
10.1007/s00540-021-02902-2
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发表时间：
2021-02-24
影响因子：
2.8
通讯作者：
Mukaida, Keiko
中科院分区：
文献类型：
--
作者：
Tsutsumi, Yasuo M.;Kakuta, Nami;Mukaida, Keiko
恶性高热（MH）是一种严重的高代谢性疾病，与钙稳态失调有关，由吸入麻醉剂（异氟烷、七氟烷、地氟烷）和去极化肌肉松弛剂（琥珀胆碱）触发。我们报告的情况下，16天大的婴儿接受腹腔镜手术。患者出现高热和高碳酸血症伴肌肉强直。诊断为MH后，给予丹曲林充分水合。患者被转移至儿科重症监护室，以监测和治疗肌红蛋白尿引起的急性肾损伤。随后，在患者中鉴定了兰尼碱受体1（RYR1）基因的两种变体，即c.1589G > A p.Arg530His和c.1841G > T p.Arg614Leu的突变点，这些突变点已知与MH相关。这是一例罕见的16天大婴儿MH病例，可能与父母遗传的两个RYR1突变有关。
Malignant hyperthermia (MH) is a severe hypermetabolic disorder associated with dysregulation of calcium homeostasis and is triggered by inhalational anesthetics (isoflurane, sevoflurane, desflurane) and a depolarizing muscle relaxant (succinylcholine). We report the case of a 16-day-old infant undergoing laparoscopic surgery. The patient developed hyperthermia and hypercarbia with muscle rigidity. After the diagnosis of MH, dantrolene was administered with sufficient hydration. The patient was transferred to the pediatric intensive care unit for monitoring and treatment of acute renal injury due to myoglobinuria. Subsequently, two variants of the ryanodine receptor 1 (RYR1) gene were identified in the patient as the mutation point at c.1589G > A p.Arg530His and c.1841G > T p.Arg614Leu, which are known to be associated with MH. This was a rare case of MH in a 16-day-old infant that might be related to two RYR1 mutations inherited from the parents.