常染色体显性遗传性多囊肾病(ADPKD)是终末期肾病的主要病因。今天,对其遗传基础的了解使制定预防疾病传播的策略成为可能。
目的:该研究的目的是分析科尔多瓦省ADPKD的自然史,并设计一个数据库,允许对具有不同突变的家族进行分组。
方法:包括所有诊断为ADPKD的患者(n=678),然后接受科尔多瓦肾病服务。各种临床变量(年龄和性别),我们对遗传变量(PKD1,PKD2突变)和是否需要肾脏替代治疗(RRT)进行了回顾性分析.
结果:患病率为每10万居民61例。PKD1(57.5年)的中位肾脏生存率明显低于PKD2(70年)(log-rankp=0.000)。我们通过基因鉴定了43.8%的人口,在61.2%的病例中检测到PKD1突变,在37.4%的病例中检测到PKD2突变,分别。最常见的突变,在PKD2(c.2159del)中,出现在属于10个不同家庭的68名患者中。肾脏预后最差的是PKD1的截短突变(c.9893G>A)。这些患者在中位年龄38.7岁时需要RRT。
结论:科尔多瓦省ADPKD的肾存活率与文献中描述的相似。我们在37.4%的病例中检测到PKD2突变。这种策略使我们能够在节约资源的同时了解我们大部分人口的遗传基础。这对于能够通过植入前遗传学诊断提供ADPKD的一级预防至关重要。
Autosomal dominant polycystic kidney disease (ADPKD) is a main cause of end-stage renal disease. Today, knowledge of its genetic basis has made it possible to develop strategies that prevent the transmission of the disease.
The objective of the study was to analyze the natural history of ADPKD in the province of Córdoba and to design a database that allows grouping families with different mutations.
All patients (n = 678) diagnosed with ADPKD followed by the Córdoba nephrology service are included. Various clinical variables (age and sex), genetic variables (mutation in PKD1, PKD2) and the need for renal replacement therapy (RRT) were retrospectively analyzed.
The prevalence was 61 cases per 100,000 inhabitants. Median renal survival was significantly worse in PKD1 (57.5 years) than in PKD2 (70 years) (log-rank p = 0.000). We have genetically identified 43.8% of the population, detecting PKD1 mutations in 61.2% and PKD2 mutations in 37.4% of cases, respectively. The most frequent mutation, in PKD2 (c.2159del), appeared in 68 patients belonging to 10 different families. The one with the worst renal prognosis was a truncating mutation in PKD1 (c.9893 G > A). These patients required RRT at a median age of 38.7 years.
Renal survival of ADPKD in the province of Córdoba is similar to that described in the literature. We detected PKD2 mutations in 37.4% of cases. This strategy allows us to know the genetic basis of a large proportion of our population while saving resources. This is essential to be able to offer primary prevention of ADPKD through preimplantation genetic diagnosis.