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一例无白蛋白血症(作者译)

[A case of analbuminaemia (author's transl)].

作者信息

Blondet P, Dieryck B, Goullé J P, Lainé G, Sauger F, Maitrot B, Bouillerot A, Gray H

出版信息

Nouv Presse Med. 1977 Oct 15;6(34):3093-4, 3099.

PMID:303355
Abstract

A new case of analbuminaemia is described in a 6 month old child of algerian origin. The condition was discovered fortuitously, the clinical manifestations consisting only of slight oedema. Serum albumin concentration was 64 mg/l and its immunochemical behavior identical to that of normal albumin. The body react by an increase in the synthesis of globulins. In the propositus, levels of alpha, antitrypsin, caeruloplasmin, haptoglobin, jalpha2 macroglobulin, transferrin, immunoglobulin M were more than 3 times normal. Analysis of non-esterified fatty acids normally carried by albumin was normal. By contrast, it was shown that the presence of free bilirubin not bound to proteins was detected from 17 micronmol/l. Study of the family showed a normal distribution of albumin and globulins. The genetic origin seen in previously reported cases was confirmed by the co-sanguinity of the parents.

摘要

本文描述了一名6个月大的阿尔及利亚裔儿童患无白蛋白血症的新病例。该病症是偶然发现的,临床表现仅为轻微水肿。血清白蛋白浓度为64mg/l,其免疫化学行为与正常白蛋白相同。机体通过球蛋白合成增加做出反应。在该患者中,α1抗胰蛋白酶、铜蓝蛋白、触珠蛋白、α2巨球蛋白、转铁蛋白、免疫球蛋白M的水平超过正常水平3倍以上。对通常由白蛋白携带的非酯化脂肪酸的分析正常。相比之下,发现未与蛋白质结合的游离胆红素从17微摩尔/升开始被检测到。对该家庭的研究表明白蛋白和球蛋白分布正常。父母的近亲关系证实了先前报道病例中的遗传起源。

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