Genetic Test Helps Predict Which Children with Kidney Disease Will Respond to Standard Therapy

Test could help guide treatment for patients

Released: 18-Jul-2014 10:00 AM EDT
Embargo expired: 24-Jul-2014 5:00 PM EDT
Source Newsroom: American Society of Nephrology (ASN)
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Highlights
• Among children with sporadic nephrotic syndrome, genetic mutations in the kidney’s filtration barrier were frequently linked with a lack of response to immunosuppressive treatments.
• The genetic test was even more predictive than a kidney biopsy for identifying children who would not benefit from immunosuppressive therapies.

Sporadic nephrotic syndrome is one of the most common kidney diseases among children.

Newswise — Washington, DC (July 24, 2014) — A genetic screening test may help predict which patients with one of the most common childhood kidney diseases will respond to standard therapies. The test is described in a study appearing in an upcoming issue of the Journal of the American Society of Nephrology (JASN). Using this test could help guide clinicians as they counsel and treat patients.

Sporadic nephrotic syndrome is one of the most common kidney diseases in children, and it
can have a genetic cause. Paola Romagnani, MD, PhD, Sabrina Giglio, MD, PhD (University of Florence and Meyer Children's Hospital, in Florence, Italy), and their colleagues designed an innovative diagnostic approach that allows for a fast analysis of all genes involved in the disease. Using this method, the team analyzed 46 different genes at the same time in 69 children with the disease, and they found that genetic mutations in the kidney’s filtration barrier were frequently linked with a lack of response to immunosuppressive treatments in patients. The genetic test was even more predictive than a kidney biopsy for identifying children who would not benefit from immunosuppressive therapies.

“Thus, this type of genetic analysis can improve the clinical approach to children with nephrotic syndrome by promoting better genetic counseling for the risk of recurrence of the disease in the family, and a better management of treatment and clinical follow up,” said Professor Romagnani.

The application of this new diagnostic approach also improved the speed of clinical diagnoses of the disease and reduced costs. “With a single test, we can help build a truly personalized therapy,” said Professor Giglio.

Study co-authors include Aldesia Provenzano, PhD, Benedetta Mazzinghi, PhD, Francesca Becherucci, MD, Laura Giunti, PhD, Giulia Sansavini, MD, Fiammetta Ravaglia, MD, Rosa Maria Roperto, MD, Silvia Farsetti,MD, Elisa Benetti, MD, Mario Rotondi, MD, Luisa Murer, MD, Elena Lazzeri, PhD, Laura Lasagni, PhD, and Marco Materassi, MD.

Disclosures: The authors reported no financial disclosures.

The article, entitled “Heterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to Immunosuppression,” will appear online at http://jasn.asnjournals.org/ on July 24, 2014.

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Founded in 1966, and with more than 14,000 members, the American Society of Nephrology (ASN) leads the fight against kidney disease by educating health professionals, sharing new knowledge, advancing research, and advocating the highest quality care for patients.


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