Dos Santos Anna R R, De Albuquerque Rafaela R, Doriqui Maria J R, Costa Graciomar C, Dos Santos Ana Paula S A
Departamento de Ciências Fisiológicas, Universidade Federal do Maranhão, Avenida dos Portugueses, 1966, Bacanga, 65085-580 São Luís, MA, Brasil.
An Acad Bras Cienc. 2013 Sep;85(3):1207-14. doi: 10.1590/S0001-37652013000300019.
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.
急性间歇性卟啉病是最常见的急性卟啉病，由肝卟胆原脱氨酶活性降低引起，导致δ-氨基-γ-酮戊酸和卟胆原蓄积。该病表现出非特异性的体征和症状，可能与其他疾病混淆，从而使诊断困难。我们报告一例急性间歇性卟啉病病例，回顾临床和实验室方面情况，重点关注发作期间及发作后的血液学和生化参数。一名28岁女性患者经历了两次发作，两次均出现胃肠道紊乱。第二次发作出现了神经精神症状。第二次发作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、轻度低钾血症、尿毒症以及C反应蛋白升高。初始治疗包括输注葡萄糖、富含碳水化合物的饮食以及停用诱发卟啉生成的药物。随后，通过使用口服避孕药维持治疗。根据观察到的数据，本文呈现的胃肠道、神经和精神障碍的体征和症状以及实验室结果可用于筛查急性卟啉病，有助于早期诊断。
