Sarkany R P E, Ross G, Willis F
Department of Dermatology, St George's Hospital and Medical School, Blackshaw Road, London SW17 0QT, U.K.
Br J Dermatol. 2006 Aug;155(2):464-6. doi: 10.1111/j.1365-2133.2006.07318.x.
We report a patient aged 73 years, who developed erythropoietic protoporphyria with typical photosensitivity, at the same time as she was diagnosed as having myelodysplastic syndrome. The myelodysplastic clone in her bone marrow completely lacked one of the two copies of chromosome 18. As chromosome 18 is the locus of the ferrochelatase gene, we postulate that this chromosomal deletion led to reduced synthesis of the enzyme in the bone marrow clone, so causing the porphyria. The nature of the remaining ferrochelatase allele was examined by polymorphism analysis and we discuss the insights that this patient's genotype may reveal about the pathogenesis of porphyria in myelodysplasia.
我们报告了一名73岁的患者，她在被诊断为骨髓增生异常综合征的同时，出现了具有典型光敏性的红细胞生成性原卟啉症。她骨髓中的骨髓增生异常克隆完全缺失了18号染色体的两个拷贝中的一个。由于18号染色体是亚铁螯合酶基因的位点，我们推测这种染色体缺失导致骨髓克隆中该酶的合成减少，从而引起卟啉症。通过多态性分析检查了剩余亚铁螯合酶等位基因的性质，并讨论了该患者的基因型可能揭示的关于骨髓增生异常中卟啉症发病机制的见解。
