Many children with kidney disease have rare “genomic imbalances” as the cause of their kidney dysfunction, often as part of neurodevelopmental syndromes. A new study finds that many unsuspected genetic diagnoses can be made using chromosomal microarrays to identify copy number variants (CNVs)—a “precision medicine” approach with major ramifications for treatment selection, family counseling, and long-term patient management.
The prospective study by a team of pediatric nephrologists and other specialists from seven centers found diagnostic copy number disorders in more than 7 percent of a large cohort of children with chronic kidney disease (CKD). “Detection of pathogenic imbalances has practical implications for personalized diagnosis and health monitoring in this population,” according to the report in the May issue of The Journal of Clinical Investigation (Verbitsky M, et al: J Clin Invest 2015; 125:2171–2178). The senior author was Ali G. Gharavi, MD, of Columbia University).