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首页> 外文期刊>Anais da Academia Brasileira de Ciencias >Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report
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Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

机译：急性间歇性卟啉症（AIP）的生化和血液学分析：病例报告

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摘要

Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis.
机译：急性间歇性卟啉是最常见的急性脉络膜，其肝毒性脱氨酶活性降低，导致δ-氨基乙酰丙烯酸和卟啉基的积累。这种疾病显示出无特异性的迹象和症状，可以与其他疾病混淆，从而使诊断困难。我们举报了急性间歇性卟啉症的情况，审查临床和实验室方面，突出危机期间和之后的血液学和生化参数。女性患者，28岁，患有两种危机，均呈现胃肠道障碍。第二个呈现的神经精神症状。第二危机期间血液学和生化参数分析显示贫血，白细胞增多，低钠血症，轻度低血症，尿毒症和升高的C反应蛋白。初始治疗包括葡萄糖输注，富含碳水化合物的饮食和卟啉原毒性的中断。随后，用口服避孕用途保持治疗。根据本文提出的实验室结果的观察到的数据，胃肠道，神经和精神病疾病的症状和症状可以应用于筛选急性卟啉症，有助于早期诊断。

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