Departments of Dermatology Gastroenterology, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
Australas J Dermatol. 2011 May;52(2):135-8. doi: 10.1111/j.1440-0960.2011.00747.x. Epub 2011 Mar 29.
A 35-year-old woman presented with skin fragility and photosensitivity with blisters affecting her face and hands. Other symptoms included intermittent headache, fatigue, abdominal pain and nausea. Porphyrin studies were markedly raised, with features consistent with hereditary coproporphyria (HCP). Despite strict precautions, symptoms remained significantly problematic. Regular haem arginate infusions of 3 mg/kg per day over 4 days on a monthly basis were commenced and resulted in significant improvement of the patient's symptoms and a reduction in urinary porphobilinogen. Although haem arginate infusion is known as a treatment for severe acute attacks of HCP, the effectiveness of regular infusions as maintenance therapy has not been established. This is the first report of effective symptom control correlating with normalization of biochemical markers in a patient receiving regular haem arginate infusions for the treatment of HCP.
一位 35 岁女性因皮肤脆弱和光敏性出现水疱，影响面部和手部。其他症状包括间歇性头痛、疲劳、腹痛和恶心。卟啉研究明显升高，特征与遗传性粪卟啉病（HCP）一致。尽管采取了严格的预防措施，但症状仍然严重。开始每月进行为期 4 天、每天 3mg/kg 的血红素精氨酸输注，患者的症状显著改善，尿卟胆原减少。虽然血红素精氨酸输注被认为是治疗 HCP 严重急性发作的一种方法，但定期输注作为维持治疗的有效性尚未确定。这是首例接受定期血红素精氨酸输注治疗 HCP 的患者症状得到有效控制并与生化标志物正常化相关的报告。
