About 10 percent. children with kidney failure have a lot of genetic changes associated with neurodevelopmental delay and mental disorders, report researchers from the Columbia University Medical Center, whose conclusions were published by the American Journal of Human Genetics.
Deficits in the area of the kidneys and urinary system constitute about 25%. all birth defects in the United States (affect one in two hundred births).
The mutations identified by the researchers belong to genetic rearrangements called copy number variations (CNV). These are extra copies or deficiencies in DNA large enough to span multiple genes. Copy number variation has a strong relationship, inter alia, with autism, schizophrenia or Parkinson’s disease.
A doctor who sees a child with a deformed kidney should take this as a signal that there is a risk of a genetic disorder that may lead to neurodevelopmental delay or mental illness later in life, says the author of the study, Dr. Ali Gharavi.
This is of great importance from the perspective of personalizing medical care. Once we know what treatments work best for a given subgroup of CHD patients, we will be able to use genetic data to choose the right type of intervention, he adds.
During the research, Dr. Gharavi collaborated with medical institutions from the USA, Italy, Poland, the Czech Republic, Croatia and Macedonia.
Researchers looked at the genomes of 522 children with kidney defects treated in Europe and the United States, 17% of whom were had genetic changes that contributed to the development of the defect, and 1 in 10 children had a copy number variation associated with mental and developmental disorders.
Scientists estimate that congenital kidney defects can be the result of hundreds of genes not functioning properly. While they expected to find several CNVs repeated in many patients, they found that almost every person had a different constellation.
Although we cannot yet answer the question of why kidney defects affect a child’s neurodevelopment in some cases, it is possible that the same genes are involved in kidney and brain development – speculates Dr. Gharavi. (PAP)
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