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[佩尔格-许埃特异常。对墨西哥东北部一个家族的临床和超微结构研究]

[The Pelger-Huët anomaly. A clinical and ultrastructural study of a family from northeastern Mexico].

作者信息

Sotelo-Cruz N, González-Olivas A, Covarrubias-Espinoza G, Lira Garcés J L, Valencia-Mayoral P

机构信息

Servicio de Medicina Interna, Hospital Infantil del Estado de Sonora, México, D.F.

出版信息

Bol Med Hosp Infant Mex. 1991 Apr;48(4):261-6.

PMID:1867747
Abstract

The Pelger-Huet anomaly is a benign disorder which affects the morphology of the granulocytes and is namely inherited as an autosomic dominant trait. The frequency of this anomaly varies from country to country and in México this constitutes the sixth family reported. This is a case of a 21-month-old boy whose anomaly was detected during the study of his ferropenic anemia with which he arrived at the hospital. During the study of his nine family members, the anomaly was found to have also been present in his father. An electron microscopy study of the subject, his father's and a normal control's neutrophils was conducted. The patient's and his father's leucocyte granules were found to be normal but decreased in number. This work includes some discussion on inherited traits, their presentation, morphology, differential diagnosis and emphasizes the importance in recognizing this anomaly and the promotion of genetic counselling.

摘要

Pelger-Huet异常是一种良性疾病,会影响粒细胞的形态,其遗传方式为常染色体显性遗传。这种异常的发生率在不同国家有所不同,在墨西哥,这是第六个被报道的家族病例。本文报告了一名21个月大的男孩,他在因缺铁性贫血到医院就诊时被检测出存在这种异常。在对其九名家庭成员的研究中,发现他的父亲也存在这种异常。对该患者、其父亲以及一名正常对照者的中性粒细胞进行了电子显微镜研究。发现患者及其父亲的白细胞颗粒正常,但数量减少。本文对遗传性状、其表现、形态学、鉴别诊断进行了一些讨论,并强调了识别这种异常以及推广遗传咨询的重要性。

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