肝红细胞生成性卟啉症
Hepatoerythropoietic porphyria.
作者信息
Bundino S, Topi G C, Zina A M, D'Allessandro Gandolfo L
机构信息
Department of Dermatology, Turin University, Italy.
出版信息
Pediatr Dermatol. 1987 Nov;4(3):229-33. doi: 10.1111/j.1525-1470.1987.tb00784.x.
A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild scarring, and hypertrichosis. Biochemically elevated levels of protoporphyrins in erythrocytes, uroporphyrins in urine, and coproporphyrins in feces are markers of this form of porphyria. A family study confirmed that he was homozygous for a defect of uroporphyrinogen decarboxylase. A trial with hydroxychloroquine produced no improvement.
一名患有肝性红细胞生成性卟啉症的患者有典型的皮肤表现
光敏反应伴水疱形成和轻度瘢痕形成，以及多毛症。生化检查显示红细胞中原卟啉水平升高、尿液中尿卟啉水平升高以及粪便中粪卟啉水平升高，这些都是这种卟啉症的标志物。一项家族研究证实，他因尿卟啉原脱羧酶缺陷而呈纯合子状态。试用羟氯喹没有效果。
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