Severe factor X deficiency and successful pregnancy
Severe factor X deficiency and successful pregnancy
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严重 X 因子缺乏和成功妊娠
DOI：
10.1111/j.1471-0528.1994.tb13557.x
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发表时间：
1994
期刊：
影响因子：
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通讯作者：
D. Taylor
中科院分区：
文献类型：
--
作者：
J. Konje;P. Murphy;R. Chazal;A. Davidson;D. Taylor
病例报告一名22岁的亚洲孕妇，已知有严重的X因子缺乏症，X因子水平为正常活动的4%（正常范围50 - 150 YO），在妊娠12周时预约产前护理。她的父母是堂兄弟姐妹，两个兄弟姐妹是X因子缺乏症的杂合子携带者。她丈夫的X因子水平正常。1983年，她首次被诊断出X因子缺乏症，当时她出现了长时间的伤口出血。她还患有月经过多，在拔牙前给予新鲜冷冻血浆预防过度出血。超声波扫描证实了胎龄，并显示单胎妊娠。计划由一名产科医生和一名血液科医生提供产前综合护理。她在怀孕18周时情况良好，超声波扫描显示胎儿解剖结构明显正常。22周时，她因阴道出血、腹痛和子宫底压痛而入院。超声波扫描显示一个55 x 25 mm的胎盘后血肿。胎儿生长和羊水量正常。Kleihauer-Betke试验呈阴性。她的X因子水平只有正常活动的2%。在给予两个单位的生物产品实验室（BPL）因子IXA（每单位的组成：500 iu因子X，500 iu抗凝血酶111，550 iu因子IXA，600 iu因子I1和5000 iu肝素）后，她的因子X水平上升至正常活性的37%。BPL因子IXA输注后第二天，她出现胸痛和呼吸短促。她的肺部临床上是清晰的，没有相关的小腿疼痛。血氧饱和度（PaO）为97%。担心可能的肺栓塞，但临床体征迅速改善，胸部X线和心电图（ECG）正常。两天后，阴道出血停止了。四天后，重复超声扫描显示血肿大小没有增加，她出院回家，一周后在产前诊所进行随访。在23、27、31和33周的产前检查中，超声扫描显示胎儿生长良好，血肿变小。在妊娠34周时，她因37.8 ℃的发热、轻度咯血、呼吸急促而再次入院，
Case report A 22 year old Asian primigravida, known to have severe factor X deficiency with a factor X level 4 % of normal activity (normal range 50150 YO), booked for antenatal care at 12 weeks of gestation. Her parents were first cousins and two siblings were heterozygous carriers of the factor X deficiency trait. Her husband had a normal factor X level. Factor X deficiency was first diagnosed in 1983 when she presented with prolonged bleeding from cuts. She also suffered from menorrhagia and was given fresh frozen plasma as prophylaxis against excessive bleeding before a dental extraction. An ultrasound scan confirmed the gestational age and showed a singleton pregnancy. Combined antenatal care by an obstetrician and a haematologist was planned. She was well at 18 weeks of gestation and an ultrasound scan showed apparently normal fetal anatomy. At 22 weeks she was admitted to hospital with vaginal bleeding, abdominal pain and tenderness over the fundus of the uterus. An ultrasound scan showed a fundal retroplacental haematoma measuring 55 x 25 mm. Fetal growth and the amniotic fluid volume were normal. A Kleihauer-Betke test was negative. Her factor X level was only 2% of normal activity. After administration of two units of BioProduct Laboratory (BPL) Factor IXA (composition per unit: 500 iu factor X, 500 iu antithrombin 111, 550 iu factor IXA, 600iu factor I1 and 5OOOiu heparin), her factor X level rose to 37% of normal activity. The day after BPL Factor IXA infusion she developed chest pain and shortness of breath. Her lungs were clinically clear, and there was no associated calf pain. Oxygen saturation (PaO,) was 97 %. There was concern about possible pulmonary embolism, but the clinical signs improved rapidly, and a chest X-ray and an electrocardiogram (ECG) were normal. After two days, the vaginal bleeding stopped. Four days later a repeat ultrasound scan showed that the haematoma had not increased in size, and she was discharged home with a follow up appointment in the antenatal clinic a week later. At antenatal visits at 23,27, 31 and 33 weeks fetal growth was satisfactory on ultrasound scans and the haematoma was getting smaller. At 34 weeks of gestation she was readmitted with a pyrexia of 37.8 "C, mild haemoptysis, shortness of breath,