状细胞病的临床和遗传预测因素:全球系统性综述
Kambe Banda1, Arthemon Nguweneza1, Khuthala Mnika1
1Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.
Omics : a journal of integrative biology
|July 28, 2025
概括
状细胞瘤 (SCN) 风险因素,包括APOL1和HMOX1等遗传变异,在本次全球综述中被确定. 在非洲需要更多的研究,以改善在状细胞疾病 (SCD) 患者中早期发现和治疗病.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
背景情况:
- 状细胞病 (SCD) 影响全球30万名新生儿,其中80%在非洲.
- 细胞病 (SCN) 影响5-18%的SCD患者,显著增加发病率和死亡率.
- 识别SCN风险因素对于有效的临床管理和公共卫生战略至关重要.
研究的目的:
- 进行全球系统性审查,探索与状细胞病 (SCN) 相关的临床和遗传因素.
- 在全球不同的人口中识别SCN的预测因素.
- 总结有关SCN风险因素的现有证据,并突出研究差距.
主要方法:
- 在遵守PRISMA指南的系统审查 (PROSPERO注册:CRD42020185763).
- 包括到2024年12月31日发表的队列,病例控制和横截面研究.
- 分析了70项基于医院的研究,重点关注SCN的临床和遗传预测因素.
主要成果:
- 鉴定了与α-thalassemia,APOL1和HMOX1基因有关的遗传关联.
- 一项全基因组关联研究表明了CRYL1,VWF,ADAMTS7,LRP1B,linc02288和FPGT-TNNI3K/TNNI3K的变异.
- 对SCN与HBA中的3.7Kb删除以及APOL1和HMOX1基因中的变异存在一致的关联.
结论:
- 临床,遗传和生物化学因素在SCN病原和进展中起着重要作用.
- 这次审查强调了SCN与特定遗传因素的一致关联,包括APOL1和HMOX1.
- 迫切需要更多的研究,特别是对非洲SCN队列的大规模前性研究,以解决数据短缺问题并改善SCN风险的识别和管理.
相关概念视频
Chronic Kidney Disease I: Introduction
73
Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
73
Chronic Kidney Disease II: Clinical Manifestations
96
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
96
Acute Kidney Injury IV: Diagnostic Studies and Prevention
57
Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
57
Nephrotic Syndrome I : Introduction
29
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
29
Chronic Kidney Disease III: Interprofessional Care
80
Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
80
Single Nucleotide Polymorphisms-SNPs
15.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.9K


