Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Autosomal dominant polycystic kidney disease (ADPKD) is the predominant hereditary factor leading to end-stage renal disease (ESRD) worldwide, affecting individuals across all races with a prevalence of 1 in 400 to 1 in 1000. The disease presents significant challenges in management, particularly wi...

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Main Authors: Latifa Dwiyanti, Hidetaka Nambo, Nur Hamid
Format: Article
Language:English
Published: MDPI AG 2024-10-01
Series:AI
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Online Access:https://www.mdpi.com/2673-2688/5/4/100
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author Latifa Dwiyanti
Hidetaka Nambo
Nur Hamid
author_facet Latifa Dwiyanti
Hidetaka Nambo
Nur Hamid
author_sort Latifa Dwiyanti
collection DOAJ
description Autosomal dominant polycystic kidney disease (ADPKD) is the predominant hereditary factor leading to end-stage renal disease (ESRD) worldwide, affecting individuals across all races with a prevalence of 1 in 400 to 1 in 1000. The disease presents significant challenges in management, particularly with limited options for slowing cyst progression, as well as the use of tolvaptan being restricted to high-risk patients due to potential liver injury. However, determining high-risk status typically requires magnetic resonance imaging (MRI) to calculate total kidney volume (TKV), a time-consuming process demanding specialized expertise. Motivated by these challenges, this study proposes alternative methods for high-risk categorization that do not rely on TKV data. Utilizing historical patient data, we aim to predict rapid kidney enlargement in ADPKD patients to support clinical decision-making. We applied seven machine learning algorithms—Random Forest, Logistic Regression, Support Vector Machine (SVM), Light Gradient Boosting Machine (LightGBM), Gradient Boosting Tree, XGBoost, and Deep Neural Network (DNN)—to data from the Polycystic Kidney Disease Outcomes Consortium (PKDOC) database. The XGBoost model, combined with the Synthetic Minority Oversampling Technique (SMOTE), yielded the best performance. We also leveraged explainable artificial intelligence (XAI) techniques, specifically Local Interpretable Model-Agnostic Explanations (LIME) and Shapley Additive Explanations (SHAP), to visualize and clarify the model’s predictions. Furthermore, we generated text summaries to enhance interpretability. To evaluate the effectiveness of our approach, we proposed new metrics to assess explainability and conducted a survey with 27 doctors to compare models with and without XAI techniques. The results indicated that incorporating XAI and textual summaries significantly improved expert explainability and increased confidence in the model’s ability to support treatment decisions for ADPKD patients.
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spelling doaj-art-e282dfc9f7094c5fb8ad9896f5e8118f2025-08-20T02:00:50ZengMDPI AGAI2673-26882024-10-01542037206510.3390/ai5040100Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD)Latifa Dwiyanti0Hidetaka Nambo1Nur Hamid2Graduate School of Natural Science and Technology, Kanazawa University, Kanazawa 920-1192, JapanGraduate School of Natural Science and Technology, Kanazawa University, Kanazawa 920-1192, JapanGraduate School of Natural Science and Technology, Kanazawa University, Kanazawa 920-1192, JapanAutosomal dominant polycystic kidney disease (ADPKD) is the predominant hereditary factor leading to end-stage renal disease (ESRD) worldwide, affecting individuals across all races with a prevalence of 1 in 400 to 1 in 1000. The disease presents significant challenges in management, particularly with limited options for slowing cyst progression, as well as the use of tolvaptan being restricted to high-risk patients due to potential liver injury. However, determining high-risk status typically requires magnetic resonance imaging (MRI) to calculate total kidney volume (TKV), a time-consuming process demanding specialized expertise. Motivated by these challenges, this study proposes alternative methods for high-risk categorization that do not rely on TKV data. Utilizing historical patient data, we aim to predict rapid kidney enlargement in ADPKD patients to support clinical decision-making. We applied seven machine learning algorithms—Random Forest, Logistic Regression, Support Vector Machine (SVM), Light Gradient Boosting Machine (LightGBM), Gradient Boosting Tree, XGBoost, and Deep Neural Network (DNN)—to data from the Polycystic Kidney Disease Outcomes Consortium (PKDOC) database. The XGBoost model, combined with the Synthetic Minority Oversampling Technique (SMOTE), yielded the best performance. We also leveraged explainable artificial intelligence (XAI) techniques, specifically Local Interpretable Model-Agnostic Explanations (LIME) and Shapley Additive Explanations (SHAP), to visualize and clarify the model’s predictions. Furthermore, we generated text summaries to enhance interpretability. To evaluate the effectiveness of our approach, we proposed new metrics to assess explainability and conducted a survey with 27 doctors to compare models with and without XAI techniques. The results indicated that incorporating XAI and textual summaries significantly improved expert explainability and increased confidence in the model’s ability to support treatment decisions for ADPKD patients.https://www.mdpi.com/2673-2688/5/4/100autosomal dominant polycystic kidney disease (ADPKD)explainable artificial intelligence (XAI)machine learning classification algorithmsuser-centered design
spellingShingle Latifa Dwiyanti
Hidetaka Nambo
Nur Hamid
Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
AI
autosomal dominant polycystic kidney disease (ADPKD)
explainable artificial intelligence (XAI)
machine learning classification algorithms
user-centered design
title Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
title_full Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
title_fullStr Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
title_full_unstemmed Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
title_short Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
title_sort leveraging explainable artificial intelligence xai for expert interpretability in predicting rapid kidney enlargement risks in autosomal dominant polycystic kidney disease adpkd
topic autosomal dominant polycystic kidney disease (ADPKD)
explainable artificial intelligence (XAI)
machine learning classification algorithms
user-centered design
url https://www.mdpi.com/2673-2688/5/4/100
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