肝移植治疗急性间歇性血卟啉病：可行的治疗方法？
Liver transplantation for acute intermittent porphyria: a viable treatment?
机构信息
King's College London School of Medicine at King's College Hospital, Institute of Liver Studies, King's College Hospital, Denmark Hill, Camberwell, London SE5 9RS, United Kingdom.
出版信息
Hepatobiliary Pancreat Dis Int. 2010 Feb;9(1):93-6.
BACKGROUND
Acute intermittent porphyria (AIP) is the most common hepatic porphyria. Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms. These symptoms result from the overproduction and accumulation of porphyrin precursors, 5-aminoleuvulinic acid (ALA) and porphobilinogen (PBG). The effect of medical treatment is transient and is not effective once irreversible neurological damage has occurred. Liver transplantation (LT) replaces hepatic enzymes and can restore normal excretion of ALA and PBG and prevent acute attacks.
METHOD
Two cases of LT for AIP were identified retrospectively from a prospectively maintained LT database.
RESULT
LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks.
CONCLUSION
LT can correct the underlying metabolic abnormality in AIP and improves quality of life significantly.
背景
急性间歇性卟啉症（AIP）是最常见的肝性卟啉症。其临床表现包括严重的致残性和危及生命的神经内脏症状和急性精神症状。这些症状是由于卟啉前体 5-氨基酮戊酸（ALA）和卟胆原（PBG）的过度产生和积累所致。药物治疗的效果是暂时的，一旦发生不可逆转的神经损伤，就没有效果。肝移植（LT）替代肝酶，可以恢复 ALA 和 PBG 的正常排泄，预防急性发作。
方法
从一个前瞻性维护的 LT 数据库中回顾性地确定了两例用于 AIP 的 LT。
结果
LT 成功，两名反复发生急性发作的患者的 AIP 得到缓解。
结论
LT 可以纠正 AIP 中的潜在代谢异常，并显著提高生活质量。
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