Epidemiology of Autosomal Dominant Polycystic Kidney Disease in Olmsted County

Abstract

Background and objectives: The prevalence of autosomal dominant polycystic kidney disease (ADPKD) remains controversial. Incidence rates in Olmsted County, Minnesota, during 1935-1980 were previously reported. The current work extends this study to 2016.

Design, setting, participants, & measurements: The Rochester Epidemiology Project and radiology databases of Mayo Clinic and Olmsted Medical Center (healthcare providers for Olmsted County) were searched to identify all subjects meeting diagnostic criteria for definite, likely, and possible ADPKD. 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 January 1, 2010 as denominator. Survival curves from the time of diagnosis were compared with expected survival of the Minnesota population.

Results: The age- and sex-adjusted annual incidence of definite and likely ADPKD diagnosis during 1980-2016 was 3.06 (95% CI, 2.52 to 3.60) per 100,000 person-years, which is 2.2 times higher than that previously reported for 1935-1980 (1.38 per 100,000 person-years). The point prevalence of definite or likely ADPKD on January 1, 2010 was 68 (95% CI, 53.90 to 82.13) per 100,000 population. Much higher incidence rates and point prevalence were obtained when possible ADPKD cases were included. Contrary to the previous Olmsted County study, patient survival in this study was not different from that in the general population.

Conclusions: The point prevalence of definite and likely ADPKD observed in this study is higher than those reported in the literature, but lower than genetic prevalence based on estimates of disease expectancy or on analysis of large population-sequencing databases.

Keywords: ADPKD; Minnesota; autosomal dominant polycystic kidney; confidence intervals; epidemiology and outcomes; female; health personnel; humans; incidence; male; nucleic acid databases; polycystic kidney disease; prevalence; publications; radiography; radiology.

Graphical abstract

Figure 1.

Annual incidence rates of ADPKD are higher when likely and possible cases are included. Trends in age- and sex-adjusted annual incidence of autosomal dominant polycystic kidney disease (ADPKD) per 100,000 person-years over time, by diagnostic criteria using (A) only diagnostic codes or (B) both diagnostic codes and radiology reports to identify cases. D, definite; D/L, definite or likely; D/L/P, definite, likely or possible.

Figure 2.

Incidences rates of definite or likely ADPKD across age groups have been relatively constant over time, while rates of possible cases have increased likely due to the higher utilization of CT and MR scans. Trends in age-specific annual incidence of ADPKD per 100,000 over time, separately for each diagnostic criterion: (A) definite ADPKD, only diagnostic codes used to identify subjects; (B) definite ADPKD, diagnostic codes and radiology used to identify subjects; (C) definite or likely ADPKD, only diagnostic codes used to identify subjects; (D) definite or likely ADPKD, diagnostic codes and radiology used to identify subjects; (E) definite, likely, or possible ADPKD, only diagnostic codes used to identify subjects; and (F) definite, likely, or possible ADPKD, diagnostic codes and radiology used to identify subjects.

Figure 3.

The number of cysts in the subjects with possible ADPKD increased with age in part because higher numbers of cysts were required to meet the diagnostic imaging criteria for ADPKD. (A) Female patients. (B) Male patients.

Figure 4.

Survival rates from the date of diagnosis of ADPKD were not significantly different from those of the general population, nor different between 1980–1996 and 1997–2016. (A) Patient survival of patients with definite, likely, or possible ADPKD (solid lines) compared with expected survival based on the Minnesota total population (dashed lines); and (B) for patients diagnosed in 1980–1996 compared with those diagnosed in 1997–2016; survival by time period included just the definite and likely cases.