关键词: Africa Genetic disorder Polycystic kidney disease Systematic review

来  源:   DOI:10.5527/wjn.v13.i1.90402   PDF(Pubmed)

Abstract:
BACKGROUND: Polycystic kidney disease (PKD) is the most common genetic cause of kidney disease. It is a progressive and irreversible condition that can lead to end-stage renal disease and many other visceral complications. Current comprehensive data on PKD patterns in Africa is lacking.
OBJECTIVE: To describe the prevalence and outcomes of PKD in the African population.
METHODS: A literature search of PubMed, African journal online, and Google Scholar databases between 2000 and 2023 was performed. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses were followed to design the study. Clinical presentations and outcomes of patients were extracted from the included studies.
RESULTS: Out of 106 articles, we included 13 studies from 7 African countries. Ten of them were retrospective descriptive studies concerning 943 PKD patients with a mean age of 47.9 years. The accurate prevalence and incidence of PKD were not known but it represented the third causal nephropathy among dialysis patients. In majority of patients, the diagnosis of the disease was often delayed. Kidney function impairment, abdominal mass, and hypertension were the leading symptoms at presentation with a pooled prevalence of 72.1% (69.1-75.1), 65.8% (62.2-69.4), and 57.4% (54.2-60.6) respectively. Hematuria and infections were the most frequent complications. Genotyping was performed in few studies that revealed a high proportion of new mutations mainly in the PKD1 gene.
CONCLUSIONS: The prevalence of PKD in African populations is not clearly defined. Clinical symptoms were almost present with most patients who had kidney function impairment and abdominal mass at the diagnostic. Larger studies including genetic testing are needed to determine the burden of PKD in African populations.
摘要:
背景:多囊肾病(PKD)是肾脏疾病最常见的遗传原因。这是一种进行性和不可逆的疾病,可导致终末期肾脏疾病和许多其他内脏并发症。目前缺乏关于非洲PKD模式的全面数据。
目的:描述非洲人群中PKD的患病率和结果。
方法:PubMed的文献检索,非洲在线杂志,并在2000年至2023年之间执行了GoogleScholar数据库。遵循系统评价和荟萃分析的首选报告项目来设计研究。从纳入的研究中提取患者的临床表现和结果。
结果:在106篇文章中,我们纳入了来自7个非洲国家的13项研究.其中10项是涉及943例PKD患者的回顾性描述性研究,平均年龄为47.9岁。PKD的确切患病率和发病率尚不清楚,但它代表了透析患者中的第三种肾病。在大多数患者中,该疾病的诊断经常被延迟。肾功能损害,腹部肿块,高血压是主要症状,合并患病率为72.1%(69.1-75.1),65.8%(62.2-69.4),和57.4%(54.2-60.6)。血尿和感染是最常见的并发症。在少数研究中进行了基因分型,这些研究揭示了主要在PKD1基因中的高比例新突变。
结论:非洲人群中PKD的患病率尚未明确定义。在诊断时,大多数患有肾功能损害和腹部肿块的患者几乎都存在临床症状。需要进行更大规模的研究,包括基因检测,以确定非洲人口中PKD的负担。
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