Solazzo Andrea, Testa Francesca, Giovanella Silvia, Busutti Marco, Furci Luciana, Carrera Paola, Ferrari Maurizio, Ligabue Giulia, Mori Giacomo, Leonelli Marco, Cappelli Gianni, Magistroni Riccardo
Dipartimento Chirurgico, Medico, Odontoiatrico e di Scienze Morfologiche con Interesse Trapiantologico, Oncologico e di Medicina Rigenerativa, Università degli Studi di Modena e Reggio Emilia, Modena, Italy.
UO Nefrologia, Dialisi e Trapianto, Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale, Ospedale Sant'Orsola-Malpighi, Alma Mater Studiorum Università di Bologna, Bologna, Italy.
PLoS One. 2018 Jan 16;13(1):e0190430. doi: 10.1371/journal.pone.0190430. eCollection 2018.
ADPKD is erroneously perceived as a not rare condition, which is mainly due to the repeated citation of a mistaken interpretation of old epidemiological data, as reported in the Dalgaard's work (1957). Even if ADPKD is not a common condition, the correct prevalence of ADPKD in the general population is uncertain, with a wide range of estimations reported by different authors. In this work, we have performed a meta-analysis of available epidemiological data in the European literature. Furthermore we collected the diagnosis and clinical data of ADPKD in a province in the north of Italy (Modena). We describe the point and predicted prevalence of ADPKD, as well as the main clinical characteristics of ADPKD in this region.
We looked at the epidemiological data according to specific parameters and criteria in the Pubmed, CINAHL, Scopus and Web of Science databases. Data were summarized using linear regression analysis. We collected patients' diagnoses in the Province of Modena according to accepted clinical criteria and/or molecular analysis. Predicted prevalence has been calculated through a logistic regression prediction applied to the at-risk population.
The average prevalence of ADPKD, as obtained from 8 epidemiological studies of sufficient quality, is 2.7: 10,000 (CI95 = 0.73-4.67). The point prevalence of ADPKD in the province of Modena is 3.63: 10,000 (CI95 = 3.010-3.758). On the basis of the collected pedigrees and identification of the at-risk subjects, the predicted prevalence in the Province of Modena is 4.76: 10,000 (CI 95% = 4.109-4.918).
As identified in our study, point prevalence is comparable with the majority of the studies of literature, while predicted prevalence (4.76: 10,000) generally appears higher than in the previous estimates of the literature, with a few exceptions. Thus, this could suggest that undiagnosed ADPKD subjects, as predicted by our approach, could be relevant and will most likely require more clinical attention. Nevertheless, our estimation, in addition to the averaged ones derived from literature, not exceeding the limit of 5:10,000 inhabitants, are compatible with the definition of rare disease adopted by the European Medicines Agency and Food and Drug Administration.
常染色体显性多囊肾病（ADPKD）被错误地认为并非罕见疾病，这主要是由于如达尔加德（1957年）著作中所报道的，对旧有流行病学数据的错误解读被反复引用。即便ADPKD并非常见疾病，但普通人群中ADPKD的正确患病率仍不明确，不同作者报告的估计值范围很广。在本研究中，我们对欧洲文献中现有的流行病学数据进行了荟萃分析。此外，我们收集了意大利北部一个省份（摩德纳）ADPKD的诊断和临床数据。我们描述了摩德纳地区ADPKD的现患率和预测患病率，以及ADPKD的主要临床特征。
我们依据特定参数和标准，在PubMed、CINAHL、Scopus和科学网数据库中查找流行病学数据。数据采用线性回归分析进行汇总。我们根据公认的临床标准和/或分子分析收集了摩德纳省患者的诊断信息。预测患病率通过应用于高危人群的逻辑回归预测来计算。
从8项质量足够的流行病学研究中得出的ADPKD平均患病率为2.7∶10000（95%置信区间=0.73 - 4.67）。摩德纳省ADPKD的现患率为3.63∶10000（95%置信区间=3.010 - 3.758）。基于收集到的家系和对高危个体的识别，摩德纳省的预测患病率为4.76∶10000（95%置信区间=4.109 - 4.918）。
如我们研究中所确定的，现患率与大多数文献研究结果相当，而预测患病率（4.76∶10000）总体上似乎高于文献先前的估计值，仅有少数例外。因此，这可能表明，正如我们的方法所预测的，未被诊断的ADPKD患者可能数量可观，很可能需要更多的临床关注。然而，我们的估计值，连同文献得出的平均值，均未超过每10000名居民中有5例的限度，这与欧洲药品管理局和美国食品药品监督管理局采用的罕见病定义相符。
