Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
复制标题
DOI：
10.1016/j.ymgmr.2020.100611
复制
发表时间：
2020-09-01
影响因子：
1.9
通讯作者：
Iijima, Kazumoto
中科院分区：
文献类型：
--
作者：
Bo, Ryosuke;Musha, Ikuma;Iijima, Kazumoto
在日本，自2018年以来，肉毒碱棕榈酰转移酶II（CPTII）缺乏症已被列为扩大的新生儿大规模筛查计划的主要目标疾病之一。然而，许多严重的婴儿型CPTII缺乏症表现出严重的神经发育迟缓或猝死，这表明在急性期CPTII缺乏症的管理仍有待详细研究。在此，我们讨论两例新生儿普查诊断。患者1从新生儿期开始接受严格的临床管理，14个月内有20例入院，而患者2则使用相对宽松的方法进行管理，同期只有2例入院。患者1显示正常发育;然而，患者2在1岁2个月时死亡。为了制定预防CPTII缺乏症患者猝死的策略，本回顾性研究重点关注急性期详细的临床管理实践和生化结果。我们还研究了传统生物标志物（例如肌酸激酶）和长链酰基肉毒碱之间的相关性。我们建议严格监测和立即就医，即使在轻微发烧或轻微腹部症状的情况下，也可以帮助预防CPTII缺乏症患者的猝死。考虑到这类患者的发病率较高，对CPTII缺乏症的严格和急性管理不能过分强调。
In Japan, carnitine palmitoyltransferase II (CPTII) deficiency has been included as one of the primary target diseases in the expanded newborn mass screening program since 2018. However, many cases of the severe infantile hepatocardiomuscular form of CPTII deficiency showed severe neurodevelopmental delay or sudden death, which indicated that management of CPTII deficiency in the acute phase remains to be studied in detail. Herein, we discuss two cases diagnosed by newborn mass screening. Patient 1 was under strict clinical management from the neonatal period, with 20 admissions in 14 months, while Patient 2 was managed using a relatively relaxed approach, with only 2 admissions in the same period. Patient 1 showed normal development; however, Patient 2 expired at the age of 1 year 2 months. To develop strategies for preventing sudden deaths in patients with CPTII deficiency, this retrospective study focused on detailed clinical management practices and biochemical findings during the acute phase. We also investigated the correlation between conventional biomarkers (such as creatine kinase) and long-chain acylcarnitines. We propose that strict monitoring and immediate medical attention, even in case of slight fever or minor abdominal symptoms, can help prevent sudden death in patients with CPTII deficiency. Considering the higher morbidity rate of such patients, strict and acute management of CPTII deficiency cannot be overemphasized.