Management of a pregnancy complicated by pompe disease.
作者信息
Weida Jennifer, Hainline B E, Bodkin C, Williams M K
机构信息
Division of Clinical and Biochemical Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, IB 130, Indianapolis, IN 46202, USA.
出版信息
Case Rep Obstet Gynecol. 2012;2012:137861. doi: 10.1155/2012/137861. Epub 2012 Dec 10.
Abstract
Background. As more women with metabolic muscle diseases reach reproductive age, knowledge of these diseases and their impact on pregnancy is necessary. Case. 23-year-old G1P0 with juvenile-onset Pompe disease (PD) delivered a viable infant by cesarean section at 32 weeks and 6 days. The pregnancy was complicated by worsening maternal pulmonary status, muscular strength, and mobility. Conclusion. The management of pregnancies complicated by Pompe disease requires a multidisciplinary approach, including expertise in neuromuscular disease, maternal-fetal medicine, biochemical genetics, pulmonology, anesthesia, and dietetics.
摘要
相似文献
1
Management of a pregnancy complicated by pompe disease.
Case Rep Obstet Gynecol. 2012;2012:137861. doi: 10.1155/2012/137861. Epub 2012 Dec 10.
2
Guidelines for the Management of a Pregnant Trauma Patient.妊娠创伤患者管理指南
J Obstet Gynaecol Can. 2015 Jun;37(6):553-74. doi: 10.1016/s1701-2163(15)30232-2.
3
Society for Maternal-Fetal Medicine Consult Series #52: Diagnosis and management of fetal growth restriction: (Replaces Clinical Guideline Number 3, April 2012).母胎医学会咨询系列第 52 号：胎儿生长受限的诊断与处理：（替代 2012 年 4 月临床指南第 3 号）。
Am J Obstet Gynecol. 2020 Oct;223(4):B2-B17. doi: 10.1016/j.ajog.2020.05.010. Epub 2020 May 12.
4
Anaesthetic management of an obstetric patient with Pompe disease.庞贝病产科患者的麻醉管理
Int J Obstet Anesth. 2008 Apr;17(2):170-3. doi: 10.1016/j.ijoa.2007.11.001. Epub 2008 Mar 4.
5
Randomized comparison of general and regional anesthesia for cesarean delivery in pregnancies complicated by severe preeclampsia.重度子痫前期合并妊娠剖宫产全身麻醉与区域麻醉的随机对照研究
Obstet Gynecol. 1995 Aug;86(2):193-9. doi: 10.1016/0029-7844(95)00139-i.
6
Pregnancy and delivery in women with Pompe disease.庞贝病女性的妊娠与分娩
Mol Genet Metab. 2014 Jun;112(2):148-53. doi: 10.1016/j.ymgme.2014.03.010. Epub 2014 Mar 30.
7
PP150. Pregnancy outcome in women with heart disease in a single tertiary care center.PP150. 一家三级医疗中心患有心脏病女性的妊娠结局。
Pregnancy Hypertens. 2012 Jul;2(3):320. doi: 10.1016/j.preghy.2012.04.261. Epub 2012 Jun 13.
8
Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature.庞贝病患者的分娩及产后管理：病例报告与文献综述
Obstet Med. 2017 Sep;10(3):150-151. doi: 10.1177/1753495X16688601. Epub 2017 Feb 14.
9
The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.嘌呤核苷磷酸化酶缺乏症患者妊娠的首例报告。
Fetal Pediatr Pathol. 2016;35(2):120-3. doi: 10.3109/15513815.2016.1139020. Epub 2016 Feb 16.
10
[Investigation on the approach of delivery after previous cesarean section of Xinjiang Uyghur women].[新疆维吾尔族妇女既往剖宫产术后分娩方式的调查]
Zhonghua Fu Chan Ke Za Zhi. 2014 Oct;49(10):736-40.
引用本文的文献
1
Successful Pregnancy Outcome in Patient with Pompe Disease Despite Discontinuation of Enzyme Replacement Therapy.尽管停用了酶替代疗法，庞贝病患者仍获得成功妊娠结局。
Eur J Case Rep Intern Med. 2025 May 21;12(6):005456. doi: 10.12890/2025_005456. eCollection 2025.
2
Anaesthetic management of caesarean section in a patient with Pompe disease.庞贝病患者剖宫产的麻醉管理
Indian J Anaesth. 2021 May;65(5):418-420. doi: 10.4103/ija.IJA_1421_20. Epub 2021 May 20.
3
Pregnancy Outcomes in Late Onset Pompe Disease.晚发型庞贝病的妊娠结局
Life (Basel). 2020 Sep 11;10(9):194. doi: 10.3390/life10090194.
4
Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature.庞贝病患者的分娩及产后管理：病例报告与文献综述
Obstet Med. 2017 Sep;10(3):150-151. doi: 10.1177/1753495X16688601. Epub 2017 Feb 14.
本文引用的文献
1
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.晚发性庞贝病的酶替代疗法：系统文献回顾。
J Neurol. 2013 Apr;260(4):951-9. doi: 10.1007/s00415-012-6636-x. Epub 2012 Aug 28.
2
First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease.妊娠和哺乳期庞贝病患者应用酶替代疗法的首个人类经验。
Mol Genet Metab. 2011 Dec;104(4):552-5. doi: 10.1016/j.ymgme.2011.09.012. Epub 2011 Sep 16.
3
Fat burners: nutrition supplements that increase fat metabolism.脂肪燃烧剂：能提高脂肪代谢的营养补充剂。
Obes Rev. 2011 Oct;12(10):841-51. doi: 10.1111/j.1467-789X.2011.00908.x.
4
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.庞贝病患儿和成人的肺部进展速度及预测因素。
Mol Genet Metab. 2011 Sep-Oct;104(1-2):129-36. doi: 10.1016/j.ymgme.2011.06.012. Epub 2011 Jun 24.
5
Pompe's disease.庞贝氏病
Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X.
6
Human coenzyme Q10 deficiency.人类辅酶Q10缺乏症。
Neurochem Res. 2007 Apr-May;32(4-5):723-7. doi: 10.1007/s11064-006-9190-z. Epub 2006 Nov 10.
7
ACOG Committee Opinion number 315, September 2005. Obesity in pregnancy.美国妇产科医师学会委员会意见第315号，2005年9月。妊娠期肥胖。
Obstet Gynecol. 2005 Sep;106(3):671-5. doi: 10.1097/00006250-200509000-00054.
8
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.纽约II型糖原贮积病的携带者频率及患该疾病的新生儿估计数量。
Am J Med Genet. 1998 Aug 27;79(1):69-72. doi: 10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k.
9
Residual acid maltase activity in late-onset acid maltase deficiency.晚发型酸性麦芽糖酶缺乏症中的残余酸性麦芽糖酶活性
Neurology. 1977 Feb;27(2):178-84. doi: 10.1212/wnl.27.2.178.
Zotero 插件