[法国首例无白蛋白血症的生化研究]

[Biochemical study on the 1st case of analbuminemia in France].

作者信息

Goulé J P, Laine G, Sauger F, Maitrot B, Bouillerot A, Gray H, Blondet P, Dieryck B

出版信息

Ann Biol Clin (Paris). 1976;34(6):403-9.

Abstract

A new case of analbuminemia was described as follows for a six month's old child of Algerian origin. The discovery of the disease was made by chance, the clinical signs were limited to small oedema. The serum albumin concentration was 64 mg/1 and its immunochemical action was identical to that of normal albumin. The system reacted by an increase of the synthesis of globulins. For the subject, the alpha1-antitrypsin, ceruleoplasmin, hatoglobin, alpha2-macroglobulin, transferrin, immunoglobulins M contents were three times higher than the standard figures. The analysis of the distribution of non esterified fatty acids ususally carried by albumin was normal. On the other hand, it was possible to show that the presence of free bilirubin independant from proteins could be detected for a concentration of 17 micronmol/l. A study of the family showed a standard repartition of albumin and globulins. The genetic origin observed in the symptoms was confirmed by the consanguinity of the parents.

摘要

以下描述了一例新的无白蛋白血症病例，患儿为一名6个月大的阿尔及利亚裔儿童。该疾病偶然被发现，临床症状仅限于轻微水肿。血清白蛋白浓度为64mg/1，其免疫化学活性与正常白蛋白相同。该系统通过球蛋白合成增加做出反应。对于该患儿，α1 -抗胰蛋白酶、铜蓝蛋白、血红蛋白、α2 -巨球蛋白、转铁蛋白、免疫球蛋白M含量比标准值高出三倍。对通常由白蛋白携带的非酯化脂肪酸分布的分析正常。另一方面，有可能显示出游离胆红素独立于蛋白质的存在，其浓度为17微摩尔/升时可被检测到。对该家庭的研究显示白蛋白和球蛋白的分布正常。父母的近亲关系证实了症状中观察到的遗传起源。