一名存活的24个月大患有新生儿期发病的肉碱棕榈酰转移酶II缺乏症的患者。
A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.
作者信息
Ikeda Naohiro, Maruyama Shinsuke, Nakano Kanna, Imakiire Ryo, Ninomiya Yumiko, Seki Shunji, Yanagimoto Kosuke, Kakihana Yasuyuki, Hara Keiichi, Tajima Go, Okamoto Yasuhiro, Kawano Yoshifumi
机构信息
Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Department of Pediatrics, Prefectural Oshima Hospital, Kagoshima, 18-1 Nazemanatsu-cho, Amami, Kagoshima 894-0015, Japan.
出版信息
Mol Genet Metab Rep. 2017 May 9;11:69-71. doi: 10.1016/j.ymgmr.2017.04.010. eCollection 2017 Jun.
Abstract
The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive treatment, including CHD, is a key for prolonged survival in patients with neonatal-onset CPT II deficiency.
摘要
肉碱棕榈酰转移酶（CPT）II缺乏症的早发型形式会导致严重后果；患者通常在新生儿期死亡。我们报告了一例新生儿期发病的CPT II缺乏症患者，其生存期延长，超过了24个月。该患者通过持续血液透析（CHD）成功治疗，使其能够克服反复出现的危象。我们认为，包括CHD在内的早期强化治疗是新生儿期发病的CPT II缺乏症患者延长生存期的关键。
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本文引用的文献
1
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Pediatr Nephrol. 2015 May;30(5):701-2. doi: 10.1007/s00467-014-2998-x. Epub 2015 Mar 7.
2
Short-term survival of hyperammonemic neonates treated with dialysis.接受透析治疗的高氨血症新生儿的短期存活率。
Pediatr Nephrol. 2015 May;30(5):839-47. doi: 10.1007/s00467-014-2945-x. Epub 2014 Sep 4.
3
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4
Current issues regarding treatment of mitochondrial fatty acid oxidation disorders.当前线粒体脂肪酸氧化障碍治疗相关问题。
J Inherit Metab Dis. 2010 Oct;33(5):555-61. doi: 10.1007/s10545-010-9188-1. Epub 2010 Sep 10.
5
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6
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
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7
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