一例OTCD妊娠患者药物治疗方案分析

doi:10.5246/jcps.2020.09.062

中国药学(英文版) ›› 2020, Vol. 29 ›› Issue (9): 666-670.DOI: 10.5246/jcps.2020.09.062

一例OTCD妊娠患者药物治疗方案分析

李莉霞¹, 刘盈秀², 杜隽铭^2*

1. 上海交通大学医学院附属新华医院药学部, 上海 200092
2. 上海交通大学医学院附属新华医院麻醉与外科重症监护病房, 上海 200092

收稿日期:2020-04-15 修回日期:2020-06-20 出版日期:2020-09-30 发布日期:2020-07-19
通讯作者: Tel.: +86-21-25077825, E-mail: dujunming@xinhuamed.com.cn
基金资助:
Clinical Trial of Xinhua Hospital (Grant No. 15LC11).

Analysis of treatment regimen in a pregnant patient with ornithine transcarbamylase deficiency

Lixia Li¹, Yingxiu Liu², Junming Du^2*

1. Department of Pharmacy, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China
2. Department of Anesthesiology and SICU, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China

Received:2020-04-15 Revised:2020-06-20 Online:2020-09-30 Published:2020-07-19
Contact: Tel.: +86-21-25077825, E-mail: dujunming@xinhuamed.com.cn
Supported by:
Clinical Trial of Xinhua Hospital (Grant No. 15LC11).

摘要/Abstract

摘要：

鸟氨酸氨甲酰转移酶缺陷症(Ornithine transcarbamylase, OTCD)是尿素循环障碍(UCDs)的一种常见类型。尿素循环过程受阻, 氨不能形成无毒尿素排除体外, 引起高血氨症。本文报道一例28岁女性, 第一次妊娠后确诊为OTCD, 针对高氨血症及并发症, 给予精氨酸、瓜氨酸和苯甲酸钠等联合治疗, 限制蛋白质摄入, 患者病情控制, 剖宫产一男婴, 2天后死亡。第二次妊娠, 染色体检查此胎仍为OTCD, 行引产手术治疗。第三次妊娠, 排除胎儿OTCD可能, 口服苯甲酸钠治疗, 血氨水平基本稳定, 剖宫产一存活男婴。本病例阐述了一例妊娠期OTCD患者的治疗过程, 对使用苯甲酸钠的安全性和有效性进行评估, 为罕见疾病的药物选择与治疗提供经验和依据。

关键词: 鸟氨酸氨甲酰转移酶缺陷症, 孕妇, 高氨血症, 苯甲酸钠

Abstract:

As a common urea-cycle disorder, ornithine transcarbamylase deficiency (OTCD) disables the conversion of ammonia into non-toxic urea, and its subsequent excretion results in hyperammonemia. We reported a 28-year-old woman who was diagnosedwith OTCD during her first pregnancy. She was treated with arginine, citrulline and sodium benzoate for complications associated with hyperammonemia, and her protein intake was restricted. The patient’s condition was stabilized, and she delivered a baby boy via cesarean section. However, the baby died 2 d later. During her second pregnancy, prenatal screening suggested that the fetus had OTCD, and an induced abortion was performed. During her third pregnancy, fetal OTCD was ruled out, and the patient was treated with oral sodium benzoate. Her blood ammonia level was stabilized, and a baby boy was successfully deliveredvia cesarean section. This case described the treatment process of the pregnant patient with OTCD, and the safety and efficacy of sodium benzoate were evaluated. Collectively, our findings provided the experience and evidence for the drug selection and treatment of these rare diseases.

Key words: Ornithine transcarbamylase deficiency, Pregnancy, Hyperammonemia, Sodium benzoate

中图分类号:

Supporting:

李莉霞, 刘盈秀, 杜隽铭. 一例OTCD妊娠患者药物治疗方案分析[J]. 中国药学(英文版), 2020, 29(9): 666-670.

Lixia Li, Yingxiu Liu, Junming Du. Analysis of treatment regimen in a pregnant patient with ornithine transcarbamylase deficiency[J]. Journal of Chinese Pharmaceutical Sciences, 2020, 29(9): 666-670.

参考文献

[1] Brusilow, S.W.; Maestri, N.E. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv. Pediatr. 1996, 43, 127-170.

[2] Keskinen, P.; Siitonen, A.; Salo, M. Hereditary urea cycle diseases in Finland. Acta Paediatr. 2008, 97, 1412-1419.

[3] Gordon, N. Ornithine transcarbamylase deficiency: a urea cycle defect. Eur. J. Paediatr. Neurol. 2003, 7, 115-121.

[4] Nicolaides, P.; Liebsch, D.; Dale, N.; Leonard, J.; Surtees, R. Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch. Dis. Child. 2002, 86, 54-56.

[5] Häberle, J.; Boddaert, N.; Burlina, A.; Chakrapani, A.; Dixon, M.; Huemer, M.; Karall, D.; Martinelli, D.; Crespo, P.S.; Santer, R.; Servais, A.; Valayannopoulos, V.; Lindner, M.; Rubio, V.; Dionisi-Vici, C. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J. Rare Dis. 2012, 7, 32.

[6] Enns, G.M.; Berry, S.A.; Berry, G.T.; Rhead, W.J.; Brusilow, S.W.; Hamosh, A. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N. Engl. J. Med. 2007, 356, 2282-2292.

[7] Mendez-Figueroa, H.; Lamance, K.; Sutton, V.R.; Aagaard-Tillery, K.; van den Veyver, I. Management of ornithine transcarbamylase deficiency in pregnancy. Am. J. Perinatol. 2010, 27, 775-784.

[8] Lamb, S.; Aye, C.Y.L.; Murphy, E.; MacKillop, L. Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications. Case Rep. 2013, 2013, bcr2012007416.

[9] Tanaka, K.; Nakamura, K.; Matsumoto, S.; Kido, J.; Mitsubuchi, H.; Ohura, T.; Endo, F. Citrulline for urea cycle disorders in Japan. Pediatr. Int. 2017, 59, 422-426.

[10] Mew, N.A.; Simpson, K.L.; Gropman, A.L.; Lanpher, B.C.; Chapman, K.A.; Summar, M.L. Urea Cycle Disorders Overview. Ed by: Adam, M.P.; Ardinger, H.H.; Pagon, R.A.; Wallace, S.E.; Bean, L.J.; Stephens, K.; Amemiya, A. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle. 2003, Apr, 29 [Updated 2017 Jun 22], 1993-2020.

[11] Laemmle, A.; Gallagher, R.C.; Keogh, A.; Stricker, T.; Gautschi, M.; Nuoffer, J.M.; Baumgartner, M.R.; Häberle, J. Frequency and pathophysiology of acute liver failure in ornithine transcarbamylase deficiency (OTCD). PLoS One. 2016, 11, e0153358.

一例OTCD妊娠患者药物治疗方案分析

Analysis of treatment regimen in a pregnant patient with ornithine transcarbamylase deficiency

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 1

编辑推荐

Metrics

本文评价