儿科风湿病诊所的遗传疾病:何时怀疑,为什么?
Naziya Perveen Maldar1, Raju Khubchandani2, Archana Khan1
1Section of Pediatric Rheumatology, NH SRCC Children's Hospital, Worli, Mumbai, India.
Indian journal of pediatrics
|September 22, 2023
概括
基因检测现在可以对儿童进行基因型诊断,识别可模仿发性关节炎 (JIA) 等炎症状况的遗传疾病. 通过高怀疑指数进行早期诊断至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 类风湿病学 类风湿病学
背景情况:
- 从历史上看,遗传性疾病是以表型诊断的.
- 基因组学的进步使得基因型诊断成为可能.
- 遗传性疾病可以呈现为非炎症性关节炎,模仿JIA.
研究的目的:
- 突出儿童遗传疾病从表型到基因型诊断的转变.
- 强调识别模仿炎症疾病的遗传疾病的重要性.
- 强调儿科医生在早期诊断中的作用.
主要方法:
- 对儿科遗传疾病的诊断方法的审查.
- 对模仿炎症状况的遗传疾病临床表现的分析.
- 强调基因测试和临床怀疑的作用.
主要成果:
- 基因型诊断越来越多地取代了遗传疾病的表型诊断.
- 一种遗传性疾病的子集呈现出类似于炎症性关节炎的肌肉骨症状.
- 儿童的非典型表现需要考虑潜在的遗传性自身炎症或自身免疫性疾病.
结论:
- 基因组学的进步有助于更早,更准确地诊断遗传疾病.
- 儿科医生必须保持对遗传疾病的高度怀疑指数,特别是非典型的表现.
- 精确诊断遗传性疾病有利于患者,家庭和医疗保健提供者.
相关概念视频
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
37
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
37
Pedigree Analysis
84.4K
Overview
84.4K
Autoimmune Disorders
481
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
481
Disorders of the Skeletal Muscle
984
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
984
Genome-wide Association Studies-GWAS
13.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.6K
Rheumatic Heart Disease I: Introduction
14
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
14


