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Abstract: TH-PO432

Computable Phenotype to Identify ADPKD Patients, A Validation Study

Session Information

Category: Genetic Diseases of the Kidneys

  • 1201 Genetic Diseases of the Kidneys: Cystic

Authors

  • Ammar, Shahed, University of Iowa Hospitals and Clinics, Iowa City, Iowa, United States
  • Borghoff, Kathleen, University of Nebraska Medical Center Department of Internal Medicine, Omaha, Nebraska, United States
  • El Mikati, Ibrahim, University of Kansas Medical Center Department of Internal Medicine, Kansas City, Kansas, United States
  • Rao, Vinamratha, University of Kansas Medical Center Department of Internal Medicine, Kansas City, Kansas, United States
  • Alshorman, Abrar, University of Kansas Medical Center Department of Internal Medicine, Kansas City, Kansas, United States
  • Mustafa, Reem, University of Kansas Medical Center Department of Internal Medicine, Kansas City, Kansas, United States
  • Jalal, Diana I., University of Iowa Hospitals and Clinics, Iowa City, Iowa, United States
  • Noureddine, Lama A., University of Iowa Hospitals and Clinics, Iowa City, Iowa, United States
Background

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. Patients with ADPKD are at high risk of end-stage kidney disease as the disease lacks a cure. It is important to facilitate the recruitment of ADPKD patients in clinical trials. Here, we sought to validate a computable phenotype based on the ICD-9/10 codes for ADPKD in the electronic medical record (EMR).

Methods

We retrospectively identified 495 patients with ICD-9/10 for ADPKD or renal cysts and were following up at the University of Iowa Hospitals and Clinics (UIHC). We conducted a chart review to verify if they had ADPKD. We stratified patients into four groups: Group A, following in the nephrology clinic with ICD-9/10 codes of ADPKD; Group B, following in the nephrology clinic with ICD-9/10 codes for renal cysts; Group C, following in the non-nephrology clinic with ICD-9/10 codes for ADPKD; and Group D, following in the non-nephrology clinic with ICD-9/10 codes for renal cysts.

Results

Of the 495 patients, 134 (27%) patients were evaluated in the nephrology clinic and 360 (73%) in the non-nephrology clinic. A total of 117 patients had ICD-9/10 codes for ADPKD, where 108 (92%) had confirmed ADPKD and 9 (8%) didn’t have ADPKD. A total of 377 had ICD-9/10 codes for renal cysts, where only 1 (0.3%) had ADPKD, while 376 (99.7%) didn’t have ADPKD. The overall sensitivity of the ICD-9/10 codes for ADPKD was 92.3% and the specificity was 99.7%. In the nephrology clinic, the sensitivity was 94.6% and the specificity was 100%. In the non-nephrology clinic, the sensitivity was 88.4% and the specificity was 99.7% (Figure.1).

Conclusion

Utilizing ICD-9/10 to identify patients with ADPKD is of excellent overall sensitivity, specificity, PPV, and NPP. The sensitivity tends to be higher in the nephrology clinic Vs non-nephrology clinic.

Figure 1: Diagnostic Accuracy Test Results For ADPKD