Abstract: TH-PO471
Multicenter Longitudinal Cohort of Children and Adults with ADPKD: The PKD-Renal Research Consortium (PKD-RRC)
Session Information
- Cystic Kidney Diseases: Clinical Assessment and Therapeutic Directions
October 24, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic
Authors
- Seliger, Stephen L., University of Maryland School of Medicine, Baltimore, Maryland, United States
- Watnick, Terry J., University of Maryland School of Medicine, Baltimore, Maryland, United States
- Mustafa, Reem, The University of Kansas Medical Center, Kansas City, Kansas, United States
- Guay-Woodford, Lisa M., The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
- Wallace, Darren P., The University of Kansas Medical Center, Kansas City, Kansas, United States
- Yu, Alan S.L., The University of Kansas Medical Center, Kansas City, Kansas, United States
Background
Further progress in the clinical-translational investigation of ADPKD requires utilization of large, well-phenotyped, longitudinal cohorts of participants with linked biospecimens.
Methods
Patients with ADPKD have been enrolled in longitudinal observational cohorts at 3 sites: Children's National Hospital; Univ of Kansas Medical Center; and Univ of Maryland School of Medicine. In the NIH-supported PKD-RRC, a joint harmonized longitudinal database was created combining data in multiple demographic and clinical domains. Extracts of data and linked biospecimens (blood, urine, DNA) are available to investigators through a standardized request process. Baseline characteristics of study participants are displayed for pediatric ADPKD participants and for adults, the latter subdivided by imaging-based Mayo risk classification.
Results
The joint clinical database includes data on 416 participants with ADPKD and 1,432 individual study visits, and comprises 609 variables across multiple health and clinical domains. The database includes 59 pediatric (age ≤18) and 357 adults with ADPKD (table). Among adults, those at higher risk of progression per Mayo imaging classification had earlier diagnosis and were more likely to be male and to have hypertension and gross hematuria (p<.05)
Conclusion
The PKD-RRC joint clinical database of adults and children with ADPKD, linked to stored biospecimens, provides a robust resource for clinical and translational investigation. Enrollment and follow-up of this cohort remains ongoing.
Table – Characteristics of Participants at Baseline, by Age Group and Mayo Risk Classification
| Pediatric (N=59) | Adult - Mayo Risk Class | |||||
| 1A (N=41) | 1B (N=74) | 1C (N=108) | 1D (N=73) | 1E (N=61) | ||
| Age (years) | 10.5 (4.9) | 47.7 (15.7) | 41.5 (14.5) | 45.3 (15.0) | 38.6 (12.9) | 31.5 (8.4) |
| Female | 33 (55.9%) | 27 (65.9%) | 50 (67.6%) | 74 (68.5%) | 38 (52.1%) | 24 (39.3%) |
| White | 47 (82.5%) | 32 (78.1%) | 58 (78.4%) | 88 (81.5%) | 63 (86.3%) | 48 (78.7%) |
| African-American | 3 (5.3%) | 7 (17.1%) | 12 (16.2%) | 13 (12.0%) | 8 (11.0%) | 6 (9.8%) |
| Asian | 7 (12.3%) | 2 (4.9%) | 4 (5.4%) | 5 (4.6%) | 2 (2.7%) | 7 (11.5%) |
| Age at Dx | 8.5 (5.3) | 34.7 (14.4) | 29.4 (12.0) | 32.5 (12.2) | 25.7 (12.2) | 21.7 (9.0) |
| Family Hx of ADPKD | 51 (86.4%) | 35 (87.5%) | 56 (81.2%) | 87 (86.1%) | 62 (87.3%) | 44 (74.6%) |
| Hypertension | 14 (25.9%) | 27 (65.9%) | 38 (52.8%) | 74 (68.5%) | 57 (78.1%) | 48 (78.7%) |
| Gross Hematuria | 5 (8.5%) | 10 (24.4%) | 10 (14.3%) | 23 (21.7%) | 29 (41.4%) | 21 (35.0%) |
| Flank Pain | 15 (25.4%) | 21 (51.2%) | 33 (46.5%) | 53 (49.5%) | 46 (63.0%) | 30 (49.2%) |
| Kidney Stone | 5 (8.5%) | 6 (15.4%) | 8 (11.1%) | 16 (15.7%) | 10 (14.9%) | 12 (20.7%) |
| eGFR (ml/min/1.73m2) | 102.6 (14.3) | 76.8 (34.7) | 88.0 (26.4) | 78.6 (34.3) | 79.9 (34.4) | 84.5 (32.7) |
Cell Values represent N(%) or mean (SD)
Funding
- NIDDK Support