Kühnel A, Gross U, Doss M O
Abteilung für Klinische Biochemie, Universitätsklinikum Marburg, Marburg, Germany.
Clin Biochem. 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4.
To describe the biochemical and clinical features in hereditary coproporphyria (HCP).
Within the last 20 years, we investigated 53 patients (male:female = 1:2.5; age = 8-86 years) suffering from HCP. We describe the characteristic levels of urine, and fecal porphyrins and their precursors in hereditary coproporphyria and present the clinical features. Especially, we measured the coproporphyrin isomers I and III.
The group of hereditary coproporphyria patients exhibited a significantly higher (p<0.0001) excretion of urinary porphyrin precursors, delta-aminolevulinic acid (median = 84 micromol/24 h) and porphobilinogen (median = 39 micromol/24 h), as compared to controls (delta-aminolevulinic acid: 22 micromol/24 h, porphobilinogen: 3 micromol/24 h; median, n = 20). The median of coproporphyrin in urine (1315 nmol/24 h) and feces (1855 nmol/g) were enhanced 12- and 168-fold, as compared to healthy subjects (urinary coproporphyrin: 106 nmol/24 h, fecal coproporphyrin: 11 nmol/g; median, n = 20). During therapy on one female patient, with IV application of heme arginate, a considerable decline of porphyrin precursors and porphyrin excretion was observed. The examination of urinary and fecal coproporphyrin isomers I and III revealed an excessive elevation of the coproporphyrin isomer III of 87% in urine and 94% in feces, respectively (normal: urinary isomer III = 69-83% and fecal isomer III = 25-40%). In feces the increase of isomer III caused an inversion of the physiologic coproporphyrin isomer III:I ratio that could be recognized in all various stages in hereditary coproporphyria and in children. Acute attacks of hereditary coproporphyria are accompanied by an acute polysymptomatic clinical syndrome, and this is associated with high levels of urinary porphyrin precursors. On review of our patients, the highest percentage had abdominal pain (89%), followed by neurologic (33%), psychiatric (28%), cardiovascular (25%), and skin symptoms (14%).
描述遗传性粪卟啉病（HCP）的生化及临床特征。
在过去20年里，我们对53例遗传性粪卟啉病患者（男:女 = 1:2.5；年龄8 - 86岁）进行了研究。我们描述了遗传性粪卟啉病患者尿液、粪便中卟啉及其前体的特征水平，并呈现其临床特征。特别地，我们测定了粪卟啉异构体I和III。
与对照组（δ-氨基-γ-酮戊酸：22 μmol/24小时，胆色素原：3 μmol/24小时；中位数，n = 20）相比，遗传性粪卟啉病患者组尿卟啉前体δ-氨基-γ-酮戊酸（中位数 = 84 μmol/24小时）和胆色素原（中位数 = 39 μmol/24小时）的排泄显著更高（p<0.0001）。与健康受试者（尿粪卟啉：106 nmol/24小时，粪粪卟啉：11 nmol/g；中位数，n = 20）相比，尿液（1315 nmol/小时）和粪便（1855 nmol/g）中粪卟啉的中位数分别升高了12倍和168倍。在对一名女性患者静脉应用精氨酸血红素进行治疗期间，观察到卟啉前体和卟啉排泄量显著下降。对尿液和粪便中粪卟啉异构体I和III的检测显示，尿液中粪卟啉异构体III过量升高87%，粪便中升高94%（正常：尿液异构体III = 69 - 83%，粪便异构体III = 25 - 40%）。在粪便中，异构体III的增加导致生理性粪卟啉异构体III:I比值倒置，可以在遗传性粪卟啉病的所有不同阶段以及儿童中识别出来。遗传性粪卟啉病的急性发作伴有急性多症状临床综合征，这与尿卟啉前体的高水平有关。在对我们的患者进行回顾时，出现腹痛的比例最高（89%），其次是神经症状（33%）、精神症状（28%）、心血管症状（25%）和皮肤症状（14%）。
