Each of the four acute hepatic porphyrias is due to mutation of an enzyme in the heme biosynthetic pathway. The accumulation of pathway intermediates that occur most notably when these diseases are active is the basis for screening and establishing a biochemical diagnosis of these rare disorders. Measurement of enzyme activities and especially DNA testing also are important for diagnosis. Suspicion of the diagnosis and specific testing, particularly measurement of urinary porphobilinogen, are often delayed because the symptoms are nonspecific, even when severe. Urinary porphyrins are also measured, but their elevation is much less specific. If porphobilinogen is elevated, second line testing will establish the type of acute porphyria. DNA testing identifies the familial mutation and enables screening of family members. Management includes removal of triggering factors whenever possible. Intravenous hemin is the most effective treatment for acute attacks. Carbohydrate loading is sometimes used for mild attacks. Cyclic attacks, if frequent, can be prevented by a GnRH analogue. Frequent noncyclic attacks are sometime preventable by scheduled (e.g. weekly) hemin infusions. Long term complications may include chronic pain, renal impairment and liver cancer. Other treatments, including RNA interference, are under development.

中文翻译：

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急性肝卟啉症：目前的诊断和管理。

四种急性肝卟啉症中的每一种都是由于血红素生物合成途径中酶的突变所致。当这些疾病活跃时，最明显发生的途径中间体的积累是筛选和建立这些罕见疾病的生化诊断的基础。酶活性的测量，尤其是DNA检测对于诊断也很重要。由于症状是非特异性的，即使是很严重的情况，诊断和具体检查的怀疑，尤其是尿胆红素原的测定也常常被推迟。还测量了尿卟啉，但其升高的特异性较差。如果胆色素原升高，则二线试验将确定急性卟啉症的类型。DNA检测可以识别家族性突变，并可以筛查家庭成员。管理包括尽可能消除触发因素。静脉血红素是治疗急性发作的最有效方法。有时将碳水化合物装载用于轻度发作。如果发生周期性发作，则可以通过GnRH类似物来预防。定期（例如每周一次）输注血红素可以预防频繁的非周期性发作。长期并发症可能包括慢性疼痛，肾功能不全和肝癌。其他治疗方法，包括RNA干扰，正在开发中。长期并发症可能包括慢性疼痛，肾功能不全和肝癌。其他治疗方法，包括RNA干扰，正在开发中。长期并发症可能包括慢性疼痛，肾功能不全和肝癌。其他治疗方法，包括RNA干扰，正在开发中。