卟啉病中的血浆卟啉

Plasma porphyrins in the porphyrias.

作者信息

Hindmarsh J T, Oliveras L, Greenway D C

机构信息

Division of Biochemistry, Ottawa Hospital, General Campus, 501 Smyth Rd., Ottawa, Ontario, Canada K1H 8L6.

出版信息

Clin Chem. 1999 Jul;45(7):1070-6.

PMID:10388484

Abstract

BACKGROUND

As an aid in the diagnosis and management of porphyria we have developed a method to fractionate and quantify plasma porphyrins and have evaluated its use in various porphyrias.

METHODS

We used HPLC with fluorometric detection to measure plasma concentrations of uroporphyrin I and III, heptacarboxyl III, hexacarboxyl III, pentacarboxyl III, and coproporphyrin I and III. We studied 245 healthy subjects, 32 patients with classical porphyria cutanea tarda (PCT), 12 patients with PCT of renal failure, 13 patients with renal failure, 8 patients with pseudoporphyria of renal failure, 3 patients with acute intermittent porphyria, 5 patients with variegate porphyria, 5 patients with hereditary coproporphyria, and 4 patients with erythropoietic protoporphyria.

RESULTS

Between-run CVs were 5.4-13%. The recoveries of porphyrins added to plasma were 71-114% except for protoporphyrin, which could not be reliably measured with this technique. Plasma porphyrin patterns clearly identified PCT, and its clinical sensitivity equaled that of urine porphyrin fractionation. The patterns also allowed differentiation of PCT of renal failure from pseudoporphyria of renal failure.

CONCLUSIONS

The assay of plasma porphyrins identifies patients with PCT and appears particularly useful for differentiating PCT of renal failure from pseudoporphyria of renal failure.

摘要

背景

为辅助卟啉病的诊断和管理，我们开发了一种分离和定量血浆卟啉的方法，并评估了其在各种卟啉病中的应用。

方法

我们使用高效液相色谱法结合荧光检测来测量血浆中尿卟啉I和III、七羧基卟啉III、六羧基卟啉III、五羧基卟啉III以及粪卟啉I和III的浓度。我们研究了245名健康受试者、32例经典迟发性皮肤卟啉病（PCT）患者、12例肾衰竭合并PCT患者、13例肾衰竭患者、8例肾衰竭假性卟啉病患者、3例急性间歇性卟啉病患者、5例杂合性卟啉病患者、5例遗传性粪卟啉病患者以及4例红细胞生成性原卟啉病患者。