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Genetic kidney disease in adults-the pathologists' perspective
Anna L Paterson1, Melanie M Y Chan2, Candice Roufosse3,4
1Department of Histopathology, Cambridge University Hospitals, Cambridge, UK.
Summary
Genetic kidney diseases cause 10-20% of adult chronic kidney disease (CKD). This review guides pathologists and nephrologists on identifying these conditions through kidney biopsy histology and genetic testing.
Area of Science:
- Nephrology
- Genetics
- Pathology
Background:
- Monogenic diseases constitute 10-20% of adult chronic kidney disease (CKD), with growing recognition due to advances in genomic testing.
- The 2024 KDIGO guidelines highlight genetic testing for unexplained CKD (CKDx) when histology is inconclusive.
- Genetic kidney diseases are often underdiagnosed due to unfamiliarity, lack of family history, or atypical presentations.
Purpose of the Study:
- To provide pathologists and nephrologists with an overview of histological patterns in genetic kidney disease.
- To outline a practical framework for integrating kidney biopsy findings with genetic testing in clinical practice.
- To emphasize the pathologist's role in identifying potential genetic kidney disease cases.
Main Methods:
- Review of histological patterns associated with genetic kidney disease.
- Discussion of the role of kidney biopsy in diagnosing genetic kidney disease.
- Integration of clinicopathological correlation (CPC) in identifying candidates for genetic testing.
Main Results:
- Histology can be the first indicator of underlying genetic kidney disease.
- Identifying genetic causes improves diagnosis, treatment, and prognosis.
- Genetic testing guides management, including therapy selection and transplantation planning.
Conclusions:
- Pathologists play a crucial role in suspecting and identifying genetic kidney disease via kidney biopsy.
- A systematic approach combining histology and genetic testing is essential for diagnosing and managing genetic kidney disease.
- Early identification and diagnosis of genetic kidney disease improve patient outcomes and facilitate personalized care.
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