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哥伦比亚的常染色体显性多囊肾病。

Autosomal dominant polycystic kidney disease in Colombia.

机构信息

Fundación Universitaria Sanitas, Bogotá, D.C, Colombia.

Unidad Renal, Clínica Colsanitas, Calle 127 No 20-78 Piso 2, Bogotá, D.C, Colombia.

出版信息

BMC Nephrol. 2023 Jul 17;24(1):211. doi: 10.1186/s12882-023-03266-3.

Abstract

BACKGROUND

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis. Knowing geographical clusters can be critical for early diagnosis, progression control, and genetic counseling. The objective was to establish the prevalence, geographic location, and ethnic groups of patients with ADPKD who underwent dialysis or kidney transplant in Colombia between 2015 and 2019.

METHODS

We did a cross-sectional study with data from the National Registry of Chronic Kidney Disease (NRCKD) managed by the High-Cost Diseases Fund (Cuenta de Alto Costo [CAC] in Spanish) between July 1, 2015, and June 30, 2019. We included Colombian population with CKD with or without renal replacement therapy (RRT) due to ADPKD. Crude and adjusted prevalence rates were estimated by state and city.

RESULTS

3,339 patients with ADPKD were included, period prevalence was 9.81 per 100,000 population; there were 4.35 cases of RRT per 100,000 population, mean age of 52.58 years (± 13.21), and 52.78% women. Seventy-six patients were Afro-Colombians, six were indigenous, and one Roma people. A total of 46.07% began scheduled dialysis. The highest adjusted prevalence rate was in Valle del Cauca (6.55 cases per 100,000 population), followed by Risaralda, and La Guajira. Regarding cities, Cali had the highest prevalence rate (9.38 cases per 100,000 population), followed by Pasto, Medellin, and Bucaramanga.

CONCLUSIONS

ADPKD prevalence is lower compared to Europe and US; some states with higher prevalence could be objective to genetic prevalence study.

摘要

背景

常染色体显性多囊肾病(ADPKD)是导致需要透析的慢性肾脏病(CKD)的最常见遗传原因。了解地理聚集情况对于早期诊断、疾病进展控制和遗传咨询至关重要。本研究的目的是确定 2015 年至 2019 年间在哥伦比亚接受透析或肾移植的 ADPKD 患者的患病率、地理位置和族群分布。

方法

我们开展了一项横断面研究,数据来自 2015 年 7 月 1 日至 2019 年 6 月 30 日期间由高成本疾病基金(Cuenta de Alto Costo,CAC)管理的国家慢性肾脏病登记处(NRCKD)。我们纳入了患有 ADPKD 所致 CKD 并接受或未接受肾脏替代治疗(RRT)的哥伦比亚人群。通过州和城市来估计粗患病率和调整后患病率。

结果

共纳入 3339 例 ADPKD 患者,该时期的患病率为 9.81/10 万;每 10 万人中有 4.35 例接受 RRT,平均年龄为 52.58 岁(±13.21 岁),女性占 52.78%。76 例为非裔哥伦比亚人,6 例为土著人,1 例为罗姆人。46.07%的患者开始接受定期透析。调整后患病率最高的州是考卡山谷(6.55/10 万),其次是里萨拉尔达和瓜希拉。就城市而言,卡利的患病率最高(9.38/10 万),其次是帕斯托、麦德林和布卡拉曼加。

结论

与欧洲和美国相比,ADPKD 的患病率较低;一些患病率较高的州可能是进行遗传患病率研究的目标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc05/10353080/7af4f358bbdf/12882_2023_3266_Fig1_HTML.jpg

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