Suppr超能文献

[先天性再生障碍性贫血 - 范科尼贫血]

[Congenital aplastic anemia-Fanconi].

作者信息

Vuković I, Antić M, Cvetković P, Stojimirović E

出版信息

Bilt Hematol Transfuz. 1977;5(3-4):147-53.

PMID:615600
Abstract

Results of the investigation of 3 children aged from 2 to 7,5 with diagnosed aplastic anemia of Fanconi type are presented. Two children were females and one child was a male. Their illness symptoms appeared at the age of one, three and four respectively. All three patients had similar symptomes: palenes, tiredness, epistaxis, appearance of hemorrhagic syndrome and delayed growth. The following anomalies were also present: small size, microcephaly, mandibular hypoplasia, high palate and malformation of the urinary tract. In one child ductus Botalli persistens was also revealed. The laboratory findings showed presence of pancytopenia of the blood and increased level of both iron and erythropoietin in the serum. The karytype of two children revealed several cells with broken chromatin and with polyploid and tetraploid cells. The meiogram showed presence of all cells in bone marrow but in lowered number. Celularity I.

摘要

本文介绍了对3名年龄在2至7.5岁之间、被诊断为范可尼型再生障碍性贫血儿童的调查结果。两名儿童为女性,一名儿童为男性。他们的疾病症状分别出现在1岁、3岁和4岁。所有三名患者都有相似的症状:面色苍白、疲倦、鼻出血、出血综合征表现和生长发育迟缓。还存在以下异常:身材矮小、小头畸形、下颌发育不全、高腭和泌尿系统畸形。在一名儿童中还发现了动脉导管未闭。实验室检查结果显示血液全血细胞减少,血清中铁和促红细胞生成素水平升高。两名儿童的核型显示有几个染色质断裂的细胞以及多倍体和四倍体细胞。骨髓涂片显示骨髓中所有细胞均存在,但数量减少。细胞比例为I级。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验