Schnaberth G, Pils P
Wien Klin Wochenschr. 1977 Jan 7;89(1):24-6.
The course of acute intermittent porphyria is described in a patient who died during an acute exacerbation of the disease. An analysis of the urinary porphyrin precursors (delta-aminolaevulinic acid and porphobilinogen), the determination of toal porphyrin excretion and the separation of haem precursors in the urine according to the number of carboxylic groups demonstrate different degrees of biochemical severity in the individual consanuinious members of this patient's family. The detection of latent carriers is of particular importance since the avoidance of porphyrogenic substances is the most important prophylactic measure to be undertaken in all latent clinical cases. According to our experience, however, prophylactic measures must also be extended to young consanguineous family members with negative excretion patterns in view of the difference in age at which the disease manifests itself.
本文描述了一名在急性间歇性卟啉症急性加重期死亡患者的病程。对尿卟啉前体（δ-氨基乙酰丙酸和卟胆原）进行分析，测定总卟啉排泄量，并根据羧基数量对尿中的血红素前体进行分离，结果显示该患者家族中具有血缘关系的个体成员存在不同程度的生化严重性。检测潜在携带者尤为重要，因为避免使用诱发卟啉症的物质是所有潜在临床病例中最重要的预防措施。然而，根据我们的经验，鉴于该疾病发病年龄存在差异，预防性措施也必须扩大到排泄模式为阴性的年轻有血缘关系的家庭成员。
