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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Porphyrins profile by high performance liquid chromatography/electrospray ionization tandem mass spectrometry for the diagnosis of porphyria
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Porphyrins profile by high performance liquid chromatography/electrospray ionization tandem mass spectrometry for the diagnosis of porphyria

机译：高效液相色谱/电喷雾串联质谱法检测卟啉的卟啉谱

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Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway. Most porphyria symptoms are nonspecific and occur intermittently; resulting frequently in missed diagnosis since the disease itself is a rare one. The aim of the study is to establish a new reliable and accurate laboratory method for separation, identification and quantitation of urinary porphyrins by liquid chromatography tandem mass spectrometry (LC/MS/MS) and thereby the diagnosis of different porphyria types for the first time in Egypt. Screening by plasma fluorescence and quantitative determination of urinary porphyrins by high performance liquid chromatography electrospray ionization tandem mass spectrometry (HPLC/ESI/MS/MS) of 50 clinically suspected patients revealed one case of variegate porphyria and five cases of porphyria cutanea tarda. Plasma fluorescence scanning is a simple procedure that can be used as screening test to detect porphyria patients that require quantitation of urinary porphyrins as a second step. Quantitative determination of urinary porphyrins using HPLC/ESI/MS/MS and ion mapping techniques are applicable for the differential diagnosis of porphyria types, since each type has a characteristic porphyrins excretion profile. Quantitative determination of urinary porphyrins by HPLC/ESI/MS/MS used in this study is a modification for the method Stoev et al. while ion mapping technique is a new technique invented by the research team at the Biochemical Genetics Department.
机译：卟啉症是血红素生物合成途径中某些酶的遗传性或获得性疾病。大多数卟啉症症状是非特异性的，间歇性地发生。由于该疾病本身是罕见的，因此经常导致漏诊。本研究的目的是建立一种新的可靠准确的实验室方法，通过液相色谱串联质谱法（LC / MS / MS）分离，鉴定和定量测定尿卟啉，从而首次诊断出不同的卟啉类型。埃及。通过血浆荧光筛查和高效液相色谱电喷雾串联质谱法（HPLC / ESI / MS / MS）对50例临床疑似患者进行定量测定，结果发现杂色卟啉症1例和角叉菜卟啉症5例。血浆荧光扫描是一种简单的程序，可以用作筛选测试，以检测需要定量尿卟啉作为第二步的卟啉症患者。使用HPLC / ESI / MS / MS和离子图技术定量测定尿卟啉适用于卟啉类型的鉴别诊断，因为每种类型都有特征性的卟啉排泄特征。本研究中使用的HPLC / ESI / MS / MS定量测定尿卟啉是对Stoev等人方法的改进。而离子作图技术是生化遗传学系研究小组发明的一项新技术。

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