Eriksen L, Seip M
Acta Paediatr Scand. 1975 Mar;64(2):287-92. doi: 10.1111/j.1651-2227.1975.tb03836.x.
A patient with a biochemically "new" type of congenital erythropoietic porphyria has been studied under various therapeutic trials. Splenectomy had no demonstrable effect on porphyrin excretion or clinical picture. Vitamin E caused a moderate fall in porphyrin excretion, however, there was no significant improvement in light tolerance and tendency to hemolysis. Beta-carotene reduced skin photosensitivity appreciably, while total porphyrin excretion remained unchanged and the tendency to develop hemolytic anemia showed only slight improvement. Red cell transfusion caused a rapid, dramatic fall in prophyrin excretion (in 4-5 days) and a transient increase in light tolerance, while the distribution of the different porphyrins excreted remained unchanged. These observations indicate that all or nearly the abnormal porphyrins excreted are of erythropoietic origin, and that the overwhelming part of the porphyrins originate from an abnormal population of shortlived red cells. Findings on fluorescence microscopy of blood and bone marrow support this view. Meticulous protection against light of the shorter wavelengths caused a similar rise in hemoglobin level as produced by red cell transfusion, however, in this instance the total excretion of porphyrins did not fall. It is suggested that the inhibitory effect of transfusion on erythropoiesis (and thereby porphyrin excretion) might be due partly to a depression of erythropoietin formation, partly to the presence of an erythropoiesis inhibiting factor (chalone) in the transfused red cells.
对一名患有生化“新型”先天性红细胞生成性卟啉病的患者进行了各种治疗试验研究。脾切除术对卟啉排泄或临床表现没有明显影响。维生素E使卟啉排泄量适度下降，然而，对光耐受性和溶血倾向没有显著改善。β-胡萝卜素明显降低了皮肤光敏性，而总卟啉排泄量保持不变，发生溶血性贫血的倾向仅略有改善。红细胞输注导致卟啉排泄迅速、显著下降（4 - 5天内），光耐受性短暂增加，而排泄的不同卟啉的分布保持不变。这些观察结果表明，所有或几乎所有排泄的异常卟啉都来源于红细胞生成，并且绝大多数卟啉来自异常的短命红细胞群体。血液和骨髓的荧光显微镜检查结果支持这一观点。对较短波长光线的精心防护导致血红蛋白水平升高，与红细胞输注产生的情况类似，然而，在这种情况下，卟啉的总排泄量并未下降。有人提出，输血对红细胞生成（进而对卟啉排泄）的抑制作用可能部分归因于促红细胞生成素形成的抑制，部分归因于输注红细胞中存在红细胞生成抑制因子（抑素）。
