Autosomal Dominant Polycystic Kidney Disease Prevalence among a Racially Diverse United States Population, 2002 through 2018

Abstract

Among a large racially and ethnically diverse US population, the prevalence of diagnosed ADPKD between 2002 and 2018 was 42.6 per 100,000 persons. ADPKD prevalence (per 100,000) was higher in (non-Hispanic) White (63.2) and Black (73.0) patients compared with Hispanic (39.9) and Asian (48.9) patients. Given the variable penetrance of ADPKD, our findings suggest race may be a factor in the clinical presentation and diagnosis of ADPKD.

A common intronic single nucleotide variant modifies PKD1 expression level

“…Although the prevalence of ADPKD in the African population is likely to be underdiagnosed, 48 in California, the crude prevalence of ADPKD for Blacks was 73.0, non-Hispanic Whites 63.2, Hispanics 39.9, and Asian/Pacific Islanders 48.9 per 100 000 (p < 0.001). 49 However, our study was not designed to assess the association of this variant with the prevalence of ADPKD in various populations.…”

Health Disparities in Kidney Failure Among Patients With Autosomal Dominant Polycystic Kidney Disease: A Cross-Sectional Study

“…Details of the KPSC population with ADPKD have been described previously. 22 In brief, we identified all patients who had an ADPKD diagnosis between January 1, 2002 and December 31, 2018 with ≥ 2 ADPKD inpatient and/or outpatient diagnosis codes on separate encounter dates identified by International Classification of Diseases, Ninth and Tenth Revision (ICD-9: 753.12, 753.13; ICD-10: Q61.2, Q61.3) ( Fig 1 ). The second encounter date was defined as the index date.…”

Addressing “Second Hits” in the Pursuit of Greater Equity in Health Outcomes for Individuals with ADPKD

“…Reasons why early detection of ADPKD may not occur among Black and Hispanic individuals are unclear. Despite epidemiologic evidence of similar patterns of ADPKD incidence in US studies among racial/ethnic groups (6,7), historical ideologies about racial differences in ADPKD predisposition have implied racial differences in disease patterns and outcomes, potentially leading to race- and ethnicity-based inequities in the detection and evaluation of ADPKD. For instance, a widely cited 1993 New England Journal of Medicine review asserted that “the disease is rare in Africa and less common in American blacks than whites” (8).…”

“…A recent analysis of USRDS data suggested that Black individuals were less likely than White individuals to have ADPKD listed as the attributing cause for kidney failure overall, but that individuals younger than age 40 with kidney failure attributed to ADPKD were more likely to be Black, suggesting underdiagnosis among older individuals (6). Aung et al (7) Studies are needed to elucidate the role of racial inequities in the treatment of ADPKD, including inequities in the use of renin-angiotensin system inhibitors, which have an essential role in the progression of ADPKD because of the putative role of renin-angiotensin-aldosterone system activation in advancing cyst growth (5). For instance, in a study of patients with ADPKD in California, significantly fewer Hispanic versus White individuals were using angiotensin-converting enzyme inhibitors and angiotensin receptor blockers (7), potentially contributing to inequities in outcomes.…”

“…A recent analysis of USRDS data suggested that Black individuals were less likely than White individuals to have ADPKD listed as the attributing cause for kidney failure overall, but that individuals younger than age 40 with kidney failure attributed to ADPKD were more likely to be Black, suggesting underdiagnosis among older individuals (6). Aung et al (7) demonstrated higher prevalence of ADPKD among Black (73.0 per 100,000 persons) versus non-Hispanic White (63.2 per 100,000 persons) individuals in a racially/ethnically diverse clinical cohort, underscoring the need to ensure that Black and other minoritized individuals are considered to be at risk of ADPKD and receive appropriate predialysis care. Notably, in this study, ADPKD was defined by International Statistical Classification of Diseases and Related Health Problems (ICD) diagnosis codes in the absence of data on confirmatory genetic testing or imaging, leaving open the possibility that many individuals in the USRDS registry could have undiagnosed disease and may have missed opportunities to receive treatments and guidance to slow disease progression.…”