一个诊断和治疗挑战的临床难题:一个病例中的两个疾病的故事
Pallavi Gaikwad1, Umair Ahmed Bargir1, Shweta Shinde1
1Indian Council of Medical Research (ICMR) - National Institute of Immunohaematology (NIIH), KEM Hospital, 13th floor New Multistorey Building, Parel Mumbai, Mumbai, India.
Journal of clinical immunology
|August 1, 2023
概括
这项研究突出了一个罕见的年轻女性病例,其中两个DNA修复基因DCLRE1C和FANCA的突变导致了联合免疫缺陷. 这种双重遗传缺陷凸显了免疫的先天性错误的复杂性.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 分子生物学分子生物学
背景情况:
- 基因组完整性对于稳态至关重要,DNA双链断裂 (DSB) 通过专门的蛋白质进行修复.
- 缺陷的DNA修复途径损害淋巴细胞的发展和V(D) J重组,影响适应性和先天性免疫力.
- 免疫的先天性错误 (IEI) 越来越多地将DNA修复基因缺陷视为一个不同的类别.
研究的目的:
- 报告一个年轻女性在两个不同的DNA修复基因DCLRE1C和FANCA中发生突变的独特病例.
- 研究由DNA修复通路中的组合缺陷引起的临床表现.
- 强调使用先进技术在IEI患者中越来越多地发现多种遗传缺陷.
主要方法:
- 临床病例介绍和详细的表型.
- 下一代测序 (NGS) 用于识别遗传突变.
- 家庭分离研究和功能测定以确认病原性.
主要成果:
- 指标患者 (P1),一个年轻的女性,呈现出与DCLRE1C和FANCA基因缺陷一致的临床症状.
- NGS在两个单独的DNA修复基因中发现了突变,这表明她的IEI具有复杂的遗传病因.
- 家庭隔离和功能性研究对于验证已识别的突变在疾病中的作用至关重要.
结论:
- 这一案例强调了在患有天生的免疫错误的患者中考虑多种遗传缺陷的重要性.
- 组合的DNA修复途径缺陷可能导致复杂的临床表现.
- 先进的遗传技术和严格的验证对于诊断和管理这种复杂的IEI至关重要.
相关概念视频
Treatment Strategies for Psychological Disorders
172
Treatment approaches for psychological disorders fall into three main categories: psychological, biological, and sociocultural. Each approach targets different aspects of mental health, requiring varying levels of education and training.
Psychological therapies focus on modifying emotions, thoughts, and behaviors through talking, interpreting, listening, rewarding, challenging, and modeling. Clinical psychologists, counselors, and social workers commonly practice psychotherapy. Clinical...
Psychological therapies focus on modifying emotions, thoughts, and behaviors through talking, interpreting, listening, rewarding, challenging, and modeling. Clinical psychologists, counselors, and social workers commonly practice psychotherapy. Clinical...
172
Dissociative Identity Disorder
152
Dissociative Identity Disorder (DID), previously termed multiple personality disorder, is a complex psychological condition characterized by the presence of two or more distinct identities or personality states. Each identity exhibits unique patterns of behavior, voice, and mannerisms and may possess separate memories and emotional responses. The alternating control between identities can result in memory gaps and challenges in recalling daily activities, often exacerbating the individual's...
152
Personality Disorders: Paranoid and Schizoid
97
Personality disorders represent enduring cognition, affect, and behavior patterns that significantly deviate from societal norms. These maladaptive traits often lead to difficulties in various domains, including interpersonal relationships, occupational settings, and overall psychological well-being. Paranoid personality disorder and schizoid personality disorder are two distinct conditions marked by odd or eccentric behavior.
Paranoid Personality Disorder
Paranoid personality disorder is...
Paranoid Personality Disorder
Paranoid personality disorder is...
97
Drug Therapy
69
The advent of drug therapy has profoundly shaped modern mental health care, providing targeted treatments for a range of psychological disorders. Psychotherapeutic drugs, classified into antianxiety, antidepressant, and antipsychotic medications, address symptoms across anxiety disorders, mood disorders, and schizophrenia. While these medications have transformed patient outcomes, they require careful management due to their potential side effects and limitations.
Antianxiety Medications
Antianxiety Medications
69
Theoretical Approaches to Psychological Disorder
256
The development of psychological disorders, which are characterized by deviant, maladaptive, and personally distressing behaviors, has been explored through several theoretical approaches.
Biological approach
The biological approach posits that internal, organic factors are the primary causes of such disorders. This perspective emphasizes brain structure and function, genetic predispositions, and neurotransmitter imbalances. For example, schizophrenia has been associated with both genetic...
Biological approach
The biological approach posits that internal, organic factors are the primary causes of such disorders. This perspective emphasizes brain structure and function, genetic predispositions, and neurotransmitter imbalances. For example, schizophrenia has been associated with both genetic...
256
Methods of Documentation VI: Case Management Model
598
The case management model is a multidisciplinary approach that involves healthcare professionals from diverse disciplines, such as physicians, nurses, therapists, social workers, and pharmacists, working collaboratively to address the various needs of patients. Each healthcare professional brings unique expertise and perspectives, contributing to a more comprehensive understanding of the patient's condition and tailoring treatment plans accordingly.
For example, a patient with a chronic...
For example, a patient with a chronic...
598


