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Autosomal Dominant Tubulointerstitial Kidney Disease: Approach to Diagnosis
Dervla M Connaughton1, Monica Arnaldi1, Kendrah O Kidd2
1Department of Biochemistry, Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada; Division of Nephrology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada; Department of Medicine, Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada.
Advances in Kidney Disease and Health
|May 23, 2026
Summary
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is often missed due to vague symptoms. This review highlights challenges in diagnosing ADTKD-MUC1 and calls for improved genetic testing methods.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a genetic kidney disorder affecting tubules and interstitium.
- Caused by variants in genes like UMOD, MUC1, REN, and APOA4, it's often underdiagnosed due to nonspecific clinical and histopathological features.
- Genetic testing is crucial but faces limitations, especially for ADTKD-MUC1, which isn't covered by standard multigene panels or exome/genome sequencing.
Purpose of the Study:
- To review the genetic basis, clinical presentation, and diagnostic strategies for ADTKD.
- To emphasize the diagnostic challenges associated with ADTKD-MUC1 due to current genetic testing limitations.
- To explore recent advancements and future directions for improving ADTKD diagnosis and patient care.
Main Methods:
- Comprehensive literature review of ADTKD genetics, clinical features, and diagnostic approaches.
- Analysis of current genetic testing methodologies and their limitations, particularly for ADTKD-MUC1.
- Exploration of recent research findings and emerging technologies in kidney disease genetics.
Main Results:
- ADTKD diagnosis is often delayed or missed due to nonspecific symptoms and limited genetic testing accessibility.
- Specific challenges exist in genetic testing for ADTKD-MUC1, hindering accurate diagnosis of this subtype.
- Advances in genetic research are crucial for understanding ADTKD's molecular basis and improving diagnostic capabilities.
Conclusions:
- Improved and accessible genetic testing is essential for accurate ADTKD diagnosis and management.
- Addressing the limitations in ADTKD-MUC1 testing is critical for comprehensive patient care.
- Future research should focus on developing advanced genetic technologies to enhance diagnostic accuracy for all ADTKD subtypes.
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