Mukerji S K, Pimstone N R, Gandhi S N, Tan K T
Clin Chem. 1985 Dec;31(12):1946-51.
We describe the methodology used for quantifying and characterizing porphyrins in various tissues and in excreta, in the diagnosis and monitoring of the therapeutic modulation of biochemical disease activity in a 53-year-old white man who has a rare form of familial porphyria cutanea tarda with bone marrow rather than hepatic expression of the disease. Liquid-chromatographic and thin-layer chromatographic analyses of the patients's urine and skin showed predominantly heptacarboxylic porphyrin and uroporphyrin, whereas his stool and bile contained isocoproporphyrin and coproporphyrin as the major products. The data reflect defective uroporphyrinogen decarboxylation. Both analytical methods gave quantitatively similar results for urinary and fecal porphyrins. A triple-lumen perfusion study of samples procured both at the ampulla of Vater and 15 cm downstream provided data for porphyrins excreted in the bile and their reabsorption in the small intestine. We evaluated: suppression by hypertransfusion of bone marrow overproduction of porphyrins and reduction of enteral absorption of porphyrins by orally administered charcoal (Acta Char) and cholestyramine.
我们描述了用于定量和表征各种组织及排泄物中卟啉的方法，该方法用于诊断和监测一名53岁白人男性生化疾病活动的治疗调节情况，该男性患有一种罕见的家族性迟发性皮肤卟啉症，疾病表现为骨髓而非肝脏卟啉表达。对该患者尿液和皮肤进行的液相色谱和薄层色谱分析显示，主要成分为七羧基卟啉和尿卟啉，而其粪便和胆汁中以异粪卟啉和粪卟啉为主要产物。这些数据反映了尿卟啉原脱羧酶缺陷。两种分析方法对尿液和粪便卟啉的定量结果相似。对在 Vater壶腹及其下游15厘米处采集的样本进行的三腔灌注研究，提供了胆汁中排出的卟啉及其在小肠中重吸收的数据。我们评估了：通过大量输血抑制骨髓卟啉过度生成，以及口服活性炭（活性炭）和考来烯胺减少肠道对卟啉的吸收。
