Harlan S L, Winkelmann R K
Mayo Clin Proc. 1983 Jul;58(7):467-71.
Bullous dermatosis developed in a patient with renal failure who was on hemodialysis. The results of standard tests for porphyria cutanea tarda--quantitation of urinary and fecal porphyrins by fluorometric assay--were within normal limits or were nondiagnostic. Assay of plasma using high-pressure liquid chromatography, however, revealed that this patient had a porphyrin profile consistent with porphyria cutanea tarda. A porphyria-like bullous eruption may occur in patients with chronic renal failure; however, in only a few cases have laboratory studies confirmed the diagnosis of porphyria cutanea tarda. Our experience suggests that, in patients with renal failure, a plasma assay may be more reliable than tests of the urine and feces in establishing a diagnosis in those patients who actually have disorders of porphyrin metabolism. We also report the results of assay of erythrocyte uroporphyrinogen decarboxylase activity and fecal isocoproporphyrin.
一名接受血液透析的肾衰竭患者出现了大疱性皮肤病。迟发性皮肤卟啉病的标准检测结果——通过荧光分析法对尿和粪便卟啉进行定量——在正常范围内或无法诊断。然而，使用高压液相色谱法对血浆进行检测发现，该患者的卟啉谱与迟发性皮肤卟啉病一致。慢性肾衰竭患者可能会出现类似卟啉病的大疱性皮疹；然而，只有少数病例通过实验室研究确诊为迟发性皮肤卟啉病。我们的经验表明，对于肾衰竭患者，在诊断那些实际存在卟啉代谢紊乱的患者时，血浆检测可能比尿液和粪便检测更可靠。我们还报告了红细胞尿卟啉原脱羧酶活性和粪便异粪卟啉的检测结果。
