Diagnosis and Emerging Biomarkers of Cystic Fibrosis-Related Kidney Disease (CFKD)
Hayrettin Yavuz1, Manish Kumar2, Himanshu Ballav Goswami3
1Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.
Insights
Kidney disease is a growing concern for people with cystic fibrosis (CF). New biomarkers and machine learning can help detect and manage CF-related kidney disease (CFKD) early.
Area of Science:
- Nephrology
- Pulmonology
- Genetics
Background:
- Kidney disease is an emerging comorbidity in people with cystic fibrosis (PwCF) due to increased longevity.
- This condition, termed CF-related kidney disease (CFKD), is linked to cardiovascular issues and end-stage kidney disease.
- Current diagnostic methods for kidney injury in PwCF are limited by sensitivity, especially given altered muscle mass and CF pathophysiology.
Purpose of the Study:
- To review the challenges in early detection of kidney injury in PwCF.
- To explore emerging diagnostic and risk stratification tools for CFKD.
- To advocate for a precision medicine approach in managing kidney health in PwCF.
Main Methods:
- Review of current literature on kidney disease in cystic fibrosis.
- Identification of novel biomarkers (blood, urinary, extracellular vesicles).
- Exploration of genetic risk profiling and machine learning integration.
Main Results:
- Conventional tests lack sensitivity for early kidney damage detection in PwCF.
- Novel biomarkers and genetic profiling show promise for identifying subclinical kidney damage.
- Machine learning can enhance personalized risk stratification.
Conclusions:
- Early detection of kidney injury is crucial for improving outcomes in PwCF.
- Emerging technologies offer potential for proactive CFKD management.
- A precision medicine strategy can shift care towards early intervention and personalized treatment.
Abstract:
As people with cystic fibrosis (PwCF) live longer, kidney disease is emerging as a significant comorbidity that is increasingly linked to cardiovascular complications and progression to end-stage kidney disease. In our recent review, we proposed the unifying term CF-related kidney disease (CFKD) to encompass the spectrum of kidney dysfunction observed in this population. Early detection of kidney injury is critical for improving long-term outcomes, yet remains challenging due to the limited sensitivity of conventional laboratory tests, particularly in individuals with altered muscle mass and unique CF pathophysiology. Emerging approaches, including novel blood and urinary biomarkers, urinary extracellular vesicles, and genetic risk profiling, offer promising avenues for identifying subclinical kidney damage. When integrated with machine learning algorithms, these tools may enable the development of personalized risk stratification models and targeted therapeutic strategies. This precision medicine approach has the potential to transform kidney disease management in PwCF, shifting care from reactive treatment of late-stage disease to proactive monitoring and early intervention.
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