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Genomic Disorders in CKD across the Lifespan
Miguel Verbitsky1, Sarathbabu Krishnamurthy1, Priya Krithivasan1
1Division of Nephrology, Department of Medicine, Columbia University, New York, New York.
Journal of the American Society of Nephrology : JASN
|October 27, 2022
Summary
Genomic disorders (GDs) are more common in pediatric and adult chronic kidney disease (CKD) patients than controls. Identifying GDs aids in precise genetic diagnosis, prognosis, and risk stratification for CKD.
Area of Science:
- Genetics
- Nephrology
- Genomic Medicine
Background:
- Genomic disorders (GDs) are linked to various health issues, including chronic kidney disease (CKD).
- Previous research indicated an association between GDs and pediatric CKD.
Purpose of the Study:
- To investigate the prevalence of GDs across the lifespan in patients with CKD.
- To explore the association of GDs with clinical outcomes and comorbidities in CKD patients.
Main Methods:
- Examined GD prevalence in pediatric (CKiD II) and adult CKD cohorts (CRIC, CU-CKD, FIND) versus controls.
- Conducted a phenome-wide association study (PheWAS) in the eMERGE cohort to identify GD-associated phenotypes.
- Analyzed associations between GDs and clinical factors like serum magnesium, education, and mortality in the CRIC cohort.
Main Results:
- GDs were found in 3.6% of pediatric CKD patients and 1.1% of adult CKD patients, compared to 0.65% in controls.
- Recurrent GDs in adults included 1q21.1, 16p11.2, 17q12 (renal cyst and diabetes syndrome), and 22q11.2.
- PheWAS revealed associations between GDs and dialysis and neuropsychiatric conditions. In CRIC, GDs correlated with lower serum magnesium, reduced educational achievement, and increased mortality risk.
Conclusions:
- Undiagnosed GDs are present in both pediatric and adult CKD patients.
- Identifying GDs facilitates accurate genetic diagnosis, improves prognosis prediction, and aids in clinical risk stratification.
- GDs may offer a molecular basis for CKD and associated comorbidities, including neurocognitive deficits.
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