Research Project
Project Title: |
A needle in a haystack.: indentifying unsuspected inherited kidney diseases |
Project Type: |
Translational research |
Disease group(s): |
Hereditary glomerulopathies, Tubulopathies, AD structural kidney disorders |
Project Summary: |
Primary: Identify patients with CKD (chronic kidney disease) and potential HKD (hereditary kidney disease) not previously diagnosed, through Natural Language Processing (NLP) from electronic medical records. Secondary: A) To evaluate the clinical validity of the automated extraction of HPO (human phenotype ontology) terms (plus added terms) from narratives of electronic medical records for the identification of patients with HKD. B) To analyze the previous incorrect diagnosis of patients with HKD not previously diagnosed. C) Determine the percentage of patients with CKD and HKD from those on renal replacement therapy and diagnosed with "nephropathy of unknown origin". D) Determine the percentage of patients with HKD out of those with a diagnosis of hypertensive nephropathy, unspecified immune glomerulopathy, diabetic nephropathy, and chronic interstitial nephropathy. Methodology: Artificial Intelligence technology will be used to identify patients with undiagnosed HKD and CKD. Initially, a curation of the HPO terms associated with each HKD will be carried out. With this list of “HKD-terms”, the medical records of all patients with CKD controlled in the last year in each of the participating centers will be analyzed using NLP. Information captured in patients' electronic health records (EHRs) will be exported to a standardized database. The list of patients with potential HKD will be analyzed at a clinical level and a genetic study will be carried out in those cases in which it is considered indicated. |
Lead principal investigator(s): |
Roser Torra, Barcelona |
Co-investigator(s): |
Carla Burballa, Barcelona Xavier Fulladaso, Barcelona |
Project Period: |
01/2023 - 01/2026 |
Sponsors: |
National funding agency |
« Back to research page