Lim H W, Poh-Fitzpatrick M B
J Am Acad Dermatol. 1984 Dec;11(6):1103-11. doi: 10.1016/s0190-9622(84)70267-2.
Hepatoerythropoietic porphyria is a rare variant of porphyria cutanea tarda, manifested clinically as photosensitivity starting in early childhood. Biochemically, there are elevated levels of protoporphyrin in erythrocytes and acetate-substituted porphyrins in the plasma, urine, and feces. Uroporphyrinogen decarboxylase activities in these patients are markedly suppressed. Thus far, only nine patients have been reported. We hereby describe the clinical manifestations, histologic changes, porphyrin profiles, and erythrocyte uroporphyrinogen decarboxylase determinations of two additional patients, 9-year-old and 7-year-old siblings, that are consistent with those of nine previously reported patients with hepatoerythropoietic porphyria.
肝红细胞生成性卟啉病是迟发性皮肤卟啉病的一种罕见变异型，临床上表现为始于幼儿期的光敏性。在生化方面，红细胞中原卟啉水平升高，血浆、尿液和粪便中乙酸取代的卟啉水平升高。这些患者的尿卟啉原脱羧酶活性明显受到抑制。迄今为止，仅报告了9例患者。我们在此描述另外两名患者（9岁和7岁的兄妹）的临床表现、组织学变化、卟啉谱以及红细胞尿卟啉原脱羧酶测定结果，这些结果与之前报告的9例肝红细胞生成性卟啉病患者一致。
