围生期红细胞疾病
Erythrocyte disorders in the perinatal period.
作者信息
Steiner Laurie A, Gallagher Patrick G
机构信息
Division of Perinatal Medicine, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520-8064, USA.
出版信息
Semin Perinatol. 2007 Aug;31(4):254-61. doi: 10.1053/j.semperi.2007.05.003.
Abstract
Anemia is a commonly encountered problem in the fetal and neonatal period, and can lead to significant morbidity and mortality. Intrinsic disorders of the erythrocyte, such as the hemoglobinopathies, enzyme deficiencies, and membrane defects are common causes of neonatal anemia. Genetic diseases that lead to decreased erythrocyte production, such as Diamond-Blackfan anemia, Schwachman-Diamond syndrome, and Congential Dyserythropoietic Anemia, are rare causes of perinatal anemia, but are important to recognize as they are often associated with other congenital abnormalities and require specialized treatment. This review focuses on the perinatal presentation and management of intrinsic erythrocyte disorders, as well as on the diagnosis and management of genetic conditions leading to erythrocyte underproduction.
摘要
贫血是胎儿期和新生儿期常见的问题，可导致严重的发病和死亡。红细胞的内在疾病，如血红蛋白病、酶缺乏症和膜缺陷是新生儿贫血的常见原因。导致红细胞生成减少的遗传性疾病，如先天性纯红细胞再生障碍性贫血、施瓦克曼-戴蒙德综合征和先天性红细胞生成异常性贫血，是围产期贫血的罕见原因，但因其常与其他先天性异常相关且需要特殊治疗，所以识别它们很重要。本综述重点关注红细胞内在疾病的围产期表现和管理，以及导致红细胞生成不足的遗传疾病的诊断和管理。
相似文献
1
Erythrocyte disorders in the perinatal period.围生期红细胞疾病
Semin Perinatol. 2007 Aug;31(4):254-61. doi: 10.1053/j.semperi.2007.05.003.
2
Hereditary disorders of the erythrocyte.红细胞遗传性疾病
Clin Perinatol. 1976 Mar;3(1):161-75.
3
Congenital Hemolytic Anemia.先天性溶血性贫血。
Med Clin North Am. 2017 Mar;101(2):361-374. doi: 10.1016/j.mcna.2016.09.008. Epub 2016 Dec 8.
4
[Erythrocyte enzyme defects and their clinical significance (author's transl)].[红细胞酶缺陷及其临床意义（作者译）]
Monatsschr Kinderheilkd. 1981 Aug;129(8):432-43.
5
Common hematologic problems in the newborn nursery.新生儿重症监护室常见的血液学问题。
Pediatr Clin North Am. 2015 Apr;62(2):509-24. doi: 10.1016/j.pcl.2014.11.011. Epub 2015 Jan 17.
6
[Hereditary enzyme defects of erythrocytes: glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency].[红细胞的遗传性酶缺陷：葡萄糖-6-磷酸脱氢酶缺乏症和丙酮酸激酶缺乏症]
Ther Umsch. 2006 Jan;63(1):47-56. doi: 10.1024/0040-5930.63.1.47.
7
Red cell disturbances in the feto-maternal unit.胎儿-母体单元中的红细胞紊乱。
Semin Perinatol. 1983 Jul;7(3):139-58.
8
[Hereditary erythrocyte enzymopathies in newborn infants with hyperbilirubinemia].[高胆红素血症新生儿中的遗传性红细胞酶病]
Bol Med Hosp Infant Mex. 1985 Aug;42(8):466-9.
9
Newborn Screening for Hemoglobinopathies and Red Cell Enzymopathies in Tripura State: A Malaria-Endemic State in Northeast India.印度东北部疟疾流行邦特里普拉邦血红蛋白病和红细胞酶病的新生儿筛查
Hemoglobin. 2018 Jan;42(1):43-46. doi: 10.1080/03630269.2018.1428619. Epub 2018 Feb 8.
10
Erythrocytes of the human neonate.人类新生儿的红细胞。
Curr Top Hematol. 1978;1:193-232.
引用本文的文献
1
Flickering of fetal erythrocytes membrane under gestational diabetes observed with dual time resolved membrane fluctuation spectroscopy.利用双时间分辨膜波动光谱法观察妊娠期糖尿病患者胎儿红细胞膜的闪烁现象。
Biochem Biophys Rep. 2023 Oct 11;36:101556. doi: 10.1016/j.bbrep.2023.101556. eCollection 2023 Dec.
2
Risk Factors Associated with Neonatal Jaundice: A Cross-Sectional Study from Iran.与新生儿黄疸相关的危险因素：来自伊朗的一项横断面研究。
Open Access Maced J Med Sci. 2018 Aug 11;6(8):1387-1393. doi: 10.3889/oamjms.2018.319. eCollection 2018 Aug 20.
3
[Application of systematic etiological analysis in final and differential diagnosis of hereditary hemolytic anemia].[系统病因分析在遗传性溶血性贫血最终诊断及鉴别诊断中的应用]
Zhonghua Xue Ye Xue Za Zhi. 2016 Jun 14;37(6):512-6. doi: 10.3760/cma.j.issn.0253-2727.2016.06.014.
4
The Effect of Iron Deficiency on Osmotic Sensitivity of Red Blood Cells from Neonatal Rats and Their Mothers.缺铁对新生大鼠及其母亲红细胞渗透敏感性的影响。
J Membr Biol. 2015 Dec;248(6):1199-206. doi: 10.1007/s00232-015-9841-6. Epub 2015 Oct 6.
5
Ribosomopathies: how a common root can cause a tree of pathologies.核糖体病：一个共同根源如何引发一系列病症。
Dis Model Mech. 2015 Sep;8(9):1013-26. doi: 10.1242/dmm.020529.
6
A Japanese neonatal case of glucose-6-phosphate dehydrogenase deficiency presenting as severe jaundice and hemolytic anemia without apparent trigger.一名日本新生儿病例，患有葡萄糖-6-磷酸脱氢酶缺乏症，表现为严重黄疸和溶血性贫血，无明显诱因。
Springerplus. 2013 Sep 4;2:434. doi: 10.1186/2193-1801-2-434. eCollection 2013.
7
Localization of a major susceptibility locus influencing preterm birth.影响早产的主要易感基因座的定位。
Mol Hum Reprod. 2013 Oct;19(10):687-96. doi: 10.1093/molehr/gat036. Epub 2013 May 20.
8
Efficacy and tolerability of a prolonged release ferrous sulphate formulation in iron deficiency anaemia: a non-inferiority controlled trial.硫酸亚铁控释片治疗缺铁性贫血的疗效和耐受性：一项非劣效性对照试验。
Eur J Nutr. 2012 Mar;51(2):221-9. doi: 10.1007/s00394-011-0210-7. Epub 2011 Jun 4.
9
Ribosomal protein L11 mutation in zebrafish leads to haematopoietic and metabolic defects.核糖体蛋白 L11 突变导致斑马鱼出现造血和代谢缺陷。
Br J Haematol. 2011 Jan;152(2):217-28. doi: 10.1111/j.1365-2141.2010.08396.x. Epub 2010 Nov 29.
10
Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.基因治疗用人同工酶拯救小鼠丙酮酸激酶缺乏症。
Mol Ther. 2009 Dec;17(12):2000-9. doi: 10.1038/mt.2009.200. Epub 2009 Sep 15.
本文引用的文献
1
Common alpha-thalassemia deletions in transfusion-dependent thalassemia patients in the Southeast Asia region of Myanmar.缅甸东南亚地区依赖输血的地中海贫血患者中常见的α地中海贫血缺失。
Lab Hematol. 2006;12(3):139-42. doi: 10.1532/LH96.06017.
2
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.法国的丙酮酸激酶缺乏症：一项为期3年的研究发现了27种新突变。
Br J Haematol. 2006 Jun;133(6):683-9. doi: 10.1111/j.1365-2141.2006.06076.x.
3
Red cell membrane disorders.红细胞膜疾病
Hematology Am Soc Hematol Educ Program. 2005:13-8. doi: 10.1182/asheducation-2005.1.13.
4
Prenatal diagnosis and management of fetal xerocytosis associated with ascites.与腹水相关的胎儿干血细胞增多症的产前诊断与管理
Fetal Diagn Ther. 2005 Sep-Oct;20(5):402-5. doi: 10.1159/000086820.
5
Bone marrow transplantation for diamond-blackfan anemia.用于治疗先天性纯红细胞再生障碍性贫血的骨髓移植
Biol Blood Marrow Transplant. 2005 Aug;11(8):600-8. doi: 10.1016/j.bbmt.2005.05.005.
6
Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression.一名PKLR基因存在无效突变且无代偿性PKM基因表达的患者发生危及生命的非球形红细胞溶血性贫血。
Blood. 2005 Sep 1;106(5):1851-6. doi: 10.1182/blood-2005-02-0555. Epub 2005 May 3.
7
8
Nonimmune hydrops fetalis due to congenital xerocytosis.先天性口形细胞增多症所致非免疫性胎儿水肿。
J Perinatol. 2005 Jan;25(1):63-5. doi: 10.1038/sj.jp.7211200.
9
A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I.I型先天性红细胞生成异常性贫血新生儿表现的综合研究。
J Pediatr Hematol Oncol. 2004 Nov;26(11):746-8. doi: 10.1097/00043426-200411000-00011.
10
Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation.孕35周及以上新生儿高胆红素血症的管理
Pediatrics. 2004 Jul;114(1):297-316. doi: 10.1542/peds.114.1.297.
Zotero 插件