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Effect of Menstrual Cycle on Acute Intermittent Porphyria

机译:月经周期对急性间歇性卟啉症的影响

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摘要

A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. In those admissions, she showed dysautonomia, vomiting, and abdominal pain. Diagnosis investigation disclosed a notable serum hyponatremia (133.7 mEq/L). She was referred for endoscopy and the histopathological lesion of the antrum in the stomach did not show neoplastic lesions. Colonoscopy, pelvic magnetic resonance imaging (MRI), total abdominal computed tomography, and video laparoscopy were without significant abnormalities. Suspicion of acute intermittent porphyria was confirmed by quantitative urine porphobilinogen-level tests and genetic analysis. Patient was successfully treated with intravenous infusion of glucose and hemin therapy.
机译:一名16岁的女性在门诊就诊,报告出现局部剧烈的腹部疼痛,伴有呕吐,对称性运动无力和手臂和腿部烧灼感。她的病史表明他的行为不合理,在许多其他参考医院的急诊室反复入院,她在那里接受了腹腔疾病的调查,并用止痛药治疗了疼痛事件。尽管使用了许多口服镇痛药,她的临床状况仍保持不变。在这些入院中,她表现出自主神经不正常,呕吐和腹痛。诊断调查显示明显的血清低钠血症(133.7 mEq / L)。她被接受内镜检查,胃窦的组织病理学病变未显示出肿瘤病变。结肠镜检查,骨盆磁共振成像(MRI),腹部计算机断层扫描和视频腹腔镜检查均无明显异常。定量尿尿胆红素原水平检测和遗传分析证实了急性间歇性卟啉病的怀疑。病人通过静脉输注葡萄糖和血红素疗法成功治疗。

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