相关实验视频

Updated: Jul 10, 2025

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis

Published on: August 12, 2020

4个月大的婴儿低C3:这是一个问题吗?

Gülşah Kaya Aksoy¹, Mustafa Gökhan Ertosun², Mustafa Koyun³

¹Department of Pediatric Nephrology, Faculty of Medicine, Akdeniz University, Antalya, 07100, Turkey. gkayaaksoy@gmail.com.

Pediatric nephrology (Berlin, Germany)

|November 24, 2023

概括

早期对慢性病 (CKD) 的遗传查至关重要. 在婴儿中发现CFH基因突变,尽管功能正常,但C3水平较低,这突显了风险家庭主动诊断的重要性.

科学领域:

腎臟病學 (nephrology) 是一種醫學.
遗传学是一个遗传学.
儿科医学儿科医学

背景情况:

慢性病 (CKD) 的家族病史是一个显著的风险因素.
膜增殖性淋巴结核炎和C3淋巴结核病是一种渐进性病.
早期诊断和干预对于管理遗传性脏疾病至关重要.

研究的目的:

为了研究患有慢性病家族病史的儿科患者病的遗传基础.
为了确定可能导致婴儿血清C3水平较低的潜在遗传突变.
强调早期基因查在风险人群中的作用.

主要方法:

进行临床外体分析以确定遗传变异.
分析了血清C3水平和功能测试.
记录了家庭病史.

主要成果:

在该患者身上发现了CFH基因的异构基因突变.
在一个受影响的叔叔身上,同样的突变在同卵性形式被发现.
患者的功能正常,但血清C3水平较低.

结论:

CFH基因突变与家族性病有关.
早期的基因查可以检测到对脏疾病的倾向,即使初始测试结果正常.
积极识别有风险的个体对于保持功能和改善结果至关重要.

关键词:

在C3型淋巴细胞病变中.发生H因子突变.过低补充血的情况.

更多相关视频

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels

Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels

Published on: August 7, 2017

Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants

Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants

Published on: March 14, 2013

相关概念视频

Development of Immunocompetence

Development of Immunocompetence

The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...