新生儿严重蛋白C缺乏症眼部病变的发病和预后：病例报告和文献回顾。

IF 2.4 3区医学 Q2 HEMATOLOGY

Pediatric Blood & Cancer Pub Date : 2025-03-01 Epub Date: 2025-01-05 DOI:10.1002/pbc.31518

Yuta Miyauchi, Naoki Egami, Hirosuke Inoue, Motoshi Sonoda, Katsuhide Eguchi, Masataka Ishimura, Masayuki Ochiai, Shoko Tsukamoto, Shinya Matsumoto, Takeshi Uchiumi, Koh-Hei Sonoda, Shouichi Ohga

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引用次数: 0

摘要

新生儿蛋白C （PC）缺乏，表现为暴发性紫癜或出血性梗死，预后较差。在一个零星的产前发作的暴发性紫癜的情况下，先发制人的干预挽救了病人，但没有她的视力。在47例眼部病变和双等位基因PROC变异的38例幸存者中，23例完全失明，8例单侧失明。只有一人视力完好。产前发病的眼部病变11例(29%[角膜混浊，n = 7；双侧持续性原发性玻璃体增生，n = 1；两者，n = 3])。眼睛是第一个受遗传性严重PC缺乏影响的器官。需要产前干预来改善视力。

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Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review.

Neonatal protein C (PC) deficiency, which presents with purpura fulminans or hemorrhagic infarction, has a poor prognosis. In a sporadic case of prenatal-onset purpura fulminans, preemptive intervention saved the patient but not her vision. Among 38 survivors from 47 cases with ocular lesions and biallelic PROC variants, 23 had total blindness and eight had unilateral blindness. Only one had intact vision. Prenatal-onset ocular lesions occurred in 11 cases (29% [corneal opacities, n = 7; bilateral persistent hyperplastic primary vitreous, n = 1; both, n = 3]). The eyes are the first organ affected by heritable severe PC deficiency. Prenatal intervention is needed to improve visual outcomes.

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来源期刊

Pediatric Blood & Cancer 医学-小儿科

CiteScore

4.90

自引率

9.40%

发文量

546

审稿时长

1.5 months

期刊介绍： Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.