It’s World Kidney Day, and at the Boston Children’s Hospital Hildebrandt Lab, we’re focused on improving the lives of patients with chronic kidney disease (CKD) year-round. Our discoveries about the genetic causes of CKD have a direct impact on patient care. Worldwide, one in five cases of CKD in patients under age 25 is caused by one of 220 genes.
“To date, our research has identified over 80 of these genes. On average, we’re identifying one new gene every six weeks,” says Friedhelm Hildebrandt, MD, chief of nephrology at Boston Children’s Hospital and professor of pediatrics at Harvard Medical School. By pinpointing the exact cause of CKD, doctors can adjust the management of the disease and make appropriate recommendations to patients and their families that lead to better long-term outcomes. …Read More
One in 10 people in their lifetime will have a kidney stone — a small, hard deposit of mineral and acid salts that can obstruct the drainage of urine, cause intense pain and, if not treated properly, lead to long-term kidney issues. Kidney stones are relatively uncommon in children, but the number of cases over the past two decades has risen.
The treatment for kidney stones has remained the same for decades — increased fluid intake, limited sodium intake, diuretics and potassium citrate therapy. Lifestyle factors are typically blamed for kidney stones, yet twin studies suggest a genetic component.
Our sister blog Vector spoke to Friedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children’s Hospital, about new research that supports pursuing a genetic diagnosis for kidney stones, especially in kids.
“The minute we find a mutation that causes disease, we have the cause of disease in hand,” Hildebrandt tells Vector. “And finding the cause has consequences for therapy.”
Learn more about research on personalized medicine for kidney stones on Vector.