Copy number variations (CNVs)—additions and deletions of bits of DNA—might provide clues into the cause of chronic kidney disease (CKD) in children, according to a study published in the Journal of Clinical investigation.
Pediatric CKD can be caused by birth defects, hereditary diseases, infection, autoimmune disorders and exposure to toxins. In many cases, however, the cause is unknown.
So investigators performed chromosomal microarray analyses on more than 400 children in the Chronic Kidney Disease in Children (CKiD) Prospective Cohort Study and compared the results to those of healthy children and adults.
The researchers found significant CNVs in 7.4% of the children with CKD, which is about 10 times higher than the percentage seen in healthy controls. The most frequent CNVs were deletions in the HNF1B gene, which is associated with renal cysts and diabetes syndrome, which in turn increases the risk of complications, such as kidney malformations, diabetes, and other medical problems.
Other CNVs found in the children with CKD were linked with neurocognitive problems, such as developmental delays, intellectual disabilities, and seizures. According to the researchers, it might explain why children with CKD struggle in school. They recommend routine genetic screening for better care.
A significant proportion of children with chronic kidney disease (CKD) have unsuspected chromosomal imbalances, including DNA anomalies that have been linked to neurocognitive disorders, according to a new Columbia University Medical Center (CUMC) study. The findings suggest that routine genetic screening of children with CKD could lead to earlier and more precise diagnoses, as well as to more personalized monitoring, prevention, and treatment. Details of the study were published today in the online issue of the Journal of Clinical investigation. Read more.