■孤立的常染色体显性多囊性肝病(ADPLD)通常被认为是一种罕见的疾病。然而,ADPLD基因截断突变的频率,群体测序数据库是1:496。随着腹部成像技术的广泛应用,肝囊肿和ADPLD的偶然检测变得更加频繁。本研究是为了确定奥姆斯特德县ADPLD的发病率和点患病率,MN,美国,以及这些如何受到腹部成像技术日益普及的影响。
■搜索了梅奥诊所和奥姆斯特德医疗中心的罗切斯特流行病学项目和放射学数据库,以确定所有符合诊断标准的受试者,很可能,或可能的ADPLD。年发病率是使用1980-2016年的事件病例作为分子计算的,以及奥姆斯特德县人口的年龄和性别特定估计值作为分母。点患病率以患病率病例为分子计算,2010年1月1日奥姆斯特德县人口的年龄和性别特定估计值作为分母。
■明确的和可能的ADPLD的发病率和点患病率分别为每100,000人年1.01和每100,000人口9.5,分别。在35例明确且可能发生的ADPLD病例中,只有15例收到了诊断代码,只有8人具有临床上显著的肝肿大。当增加可能的病例时,发病率要高得多,主要通过放射学数据库识别,尤其是近年来和老年患者,因为影像学检查的应用越来越多。
■临床显著孤立性ADPLD是一种罕见疾病,患病率<1:10,000人群。ADPLD的总体患病率,然而,在很大程度上没有临床意义,可能更高,更接近报道的遗传患病率。
■孤立的常染色体显性遗传多囊性肝病(ADPLD)通常被认为是一种罕见的疾病。然而,我们证明这是一种相对常见的疾病,这很少(<1:10,000人群)具有临床意义。
UNASSIGNED: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, the frequency of truncating mutations to ADPLD genes in large, population sequencing databases is 1:496. With the increasing use of abdominal imaging, incidental detection of hepatic cysts and ADPLD has become more frequent. The present study was performed to ascertain the incidence and point prevalence of ADPLD in Olmsted County, MN, USA, and how these are impacted by the increasing utilisation of abdominal imaging.
UNASSIGNED: The Rochester Epidemiology Project and radiology databases of Mayo Clinic and Olmsted Medical Center were searched to identify all subjects meeting diagnostic criteria for definite, likely, or possible ADPLD. Annual incidence rates were calculated using incident cases during 1980-2016 as numerator, and age- and sex-specific estimates of the population of Olmsted County as denominator. Point prevalence was calculated using prevalence cases as numerator, and age- and sex-specific estimates of the population of Olmsted County on 1 January 2010 as denominator.
UNASSIGNED: The incidence rate and point prevalence of combined definite and likely ADPLD were 1.01 per 100,000 person-years and 9.5 per 100,000 population, respectively. Only 15 of 35 definite and likely incident ADPLD cases had received a diagnostic code, and only 8 had clinically significant hepatomegaly. The incidence rates were much higher when adding possible cases, mainly identified through radiology databases, particularly in recent years and in older patients because of the increased utilisation of imaging studies.
UNASSIGNED: Clinically significant isolated ADPLD is a rare disease with a prevalence <1:10,000 population. The overall prevalence of ADPLD, however, to a large extent not clinically significant, is likely much higher and closer to the reported genetic prevalence.
UNASSIGNED: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, we demonstrate that it is a relatively common disease, which is rarely (<1:10,000 population) clinically significant.