多囊肾病在非洲人群中的发病率和结果:系统综述。

Modou Ndongo, Lot Motoula Nehemie, Baratou Coundoul, Abou Abdallah Malick Diouara, Sidy Mohamed Seck
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摘要

背景:多囊肾(PKD)是最常见的遗传性肾病。它是一种进行性和不可逆的疾病,可导致终末期肾病和许多其他内脏并发症。目的:描述PKD在非洲人群中的患病率和结果:方法:对2000年至2023年间的PubMed、非洲期刊在线和谷歌学术数据库进行文献检索。研究设计遵循《系统综述和元分析首选报告项目》。从纳入的研究中提取了患者的临床表现和结果: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篇为回顾性描述性研究,涉及943名PKD患者,平均年龄为47.9岁。PKD的准确流行率和发病率尚不清楚,但它是透析患者中第三大致病性肾病。大多数患者的疾病诊断往往被延误。肾功能损害、腹部肿块和高血压是患者发病时的主要症状,总发病率分别为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。少数研究进行了基因分型,结果显示,主要在PKD1基因中出现新突变的比例很高:结论:PKD在非洲人群中的发病率尚不明确。大多数患者在诊断时几乎都有肾功能损害和腹部肿块等临床症状。需要进行包括基因检测在内的更大规模的研究,以确定PKD在非洲人群中的发病率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prevalence and outcomes of polycystic kidney disease in African populations: A systematic review.

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.

Aim: 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.

Conclusion: 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.

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