010 Late onset congenital erythropoietic porphyria (Günther's disease)

A. Kontos, D. Ozog, H. Lim
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引用次数: 2

Abstract

Congenital erythropoietic porphyria is a rare autosomal recessive disease due to the deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the porphyrin-heme synthetic pathway. Of the porphyrias, it is the most mutilating type, usually presenting early in life. We present a patient who developed skin fragility of sun-exposed skin and red urine at the age of 72 years. Porphyrin profile showed plasma maximum fluorescence at neutral pH of 617 nm. In plasma, urine and erythrocytes, the predominant porphyrins were uroporphyrin and coproporphyrin. In all specimens, isomer I predominated. Urine δ-aminolevulinic acid and porphobilinogen, and erythrocyte uroporphyrinogen decarboxylase levels were within nomal limits. These finding were consistent with congenital erythropoietic porphyria. Thrombocytopenia and myelodysplasia with bone-marrow sideroblasts were also incidentally discovered. Including our patient, only 12 cases of late onset congenital erythropoietic porphyria have been reported worldwide, with our patient being the oldest. Patients who develop late onset congenital erythropoietic porphyria develop less severe manifestations, possibly due to heterogeneous mutations in the defective enzyme. Of the 12 reported cases, seven had thrombocytopenia, six of which also had myelodysplasia.
晚发型先天性红细胞生成性卟啉症(g nther病)
先天性红细胞生成性卟啉症是一种罕见的常染色体隐性遗传病,是由于卟啉-血红素合成途径中的第四种酶-尿卟啉原III合酶活性不足所致。在卟啉症中,它是最具致残性的类型,通常在生命早期出现。我们提出一个病人谁发展皮肤脆弱的阳光暴露的皮肤和红色尿液在72岁。在中性pH为617 nm时,卟啉谱显示血浆最大荧光。在血浆、尿液和红细胞中,主要的卟啉是尿卟啉和同比例卟啉。在所有标本中,异构体I占主导地位。尿δ-氨基乙酰丙酸、卟啉原、红细胞尿卟啉原脱羧酶水平均在正常范围内。这些发现与先天性红细胞生成性卟啉症一致。血小板减少症和骨髓异常增生伴骨髓铁母细胞也被偶然发现。包括我们的病人在内,全世界仅有12例晚发性先天性红细胞生成性卟啉症被报道,我们的病人是年龄最大的。迟发性先天性红细胞生成性卟啉症的患者表现较轻,可能是由于缺陷酶的异质突变。在12例报告病例中,7例有血小板减少症,其中6例也有骨髓增生异常。
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