Grob U, Puy H, Jacob K, Deybach J C, Kremer J, Doss M O
German Competence Center for Porphyria Diagnosis and Consultation, Marburg, Germany.
J Inherit Metab Dis. 2006 Feb;29(1):157-61. doi: 10.1007/s10545-006-0155-9.
The biochemical and the molecular diagnoses of an inherited porphyria require experience. False positive or negative screening tests and the low penetrance of the disease make a correct diagnosis difficult.The biochemical and the molecular procedures for the diagnosis of acute intermittent porphyria were applied to five unrelated patients suffering from acute intermittent porphyria. All patients were shown to be gene carriers of acute intermittent porphyria by both methods. The two different possibilities of the diagnosis corresponded well. In a family definitively identified by molecular diagnosis of one of the patients and his relatives, the patient's two children were asymptomatic. His son was shown to be a gene carrier of the father's deficiency by biochemical as well as molecular analysis, whereas his daughter was not affected by acute intermittent porphyria.
遗传性卟啉病的生化和分子诊断需要经验。筛查试验的假阳性或假阴性以及该疾病的低外显率使得正确诊断变得困难。将急性间歇性卟啉病的生化和分子诊断方法应用于5例无亲缘关系的急性间歇性卟啉病患者。两种方法均显示所有患者均为急性间歇性卟啉病的基因携带者。两种不同的诊断可能性结果吻合良好。在通过对一名患者及其亲属进行分子诊断而明确鉴定的一个家族中，该患者的两个孩子无症状。通过生化及分子分析显示，其儿子是父亲缺陷基因的携带者，而其女儿未患急性间歇性卟啉病。
