Stories about: kidney failure

Precision medicine for end-stage kidney failure? 40 percent of kids needing transplants have identifiable mutations

People forming a kidney shape - indicating that not all ESRD is alike and that it can have multiple genetic causes

In adults, end-stage renal disease, or ESRD, is most commonly a complication of diabetes or hypertension. In children, teens and young adults, it’s a different picture entirely. New research finds that more than half of people needing a kidney transplant before age 25 have a congenital anomaly of the kidney or urinary tract, and that 40 percent have an identifiable genetic cause of ESRD. Knowing these genetic underpinnings can inform better care for patients with kidney disease, says study leader Friedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children’s Hospital.

Hildebrandt and his colleagues drew on 263 families whose child received a new kidney at Boston Children’s between 2007 and 2017, before the age of 25. In 68 families, the team was able to perform whole-exome sequencing, comparing their DNA with a normal reference sample.

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Accessible and affordable dialysis for children in developing countries


Children living outside industrialized nations have limited access to health care, and many children with severe kidney dysfunction do not have access to dialysis. Some developing countries have access to manual peritoneal dialysis, which requires the placement of a catheter into the abdominal cavity every one to two hours, 10 hours per day. But supplies are expensive, and many countries lack the infrastructure needed to get large quantities of dialysis fluid to children’s homes.

At the recent 2015 Boston Children’s Hospital Global Pediatric Innovation Summit + Awards, pediatric nephrologist Sara Jandeska, MD, of Rush Children’s Hospital in Chicago, pitched a portable, affordable solution: providing just the dialysis salts.

See more posts and videos from the Global Pediatric Innovation Summit.

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Decoding kidney disease, one gene at a time

blood samples chronic kidney disease
More than a third of chronic kidney diseases are caused by single mutations on single genes (Image: Graham Colm)

Part 2 of a two-part series on kidney disease. Part 1 is here.

Friedhelm Hildebrandt, MD, receives around one blood sample in the mail per day from a patient with chronic kidney disease. Over 10 years, he’s collected more than 5,000 samples from patients all over the world—in hopes of finding the genetic mutations that cause them and, ultimately, new treatments.

Consider the mutation in an 8-month-old boy from Turkey, who had fluid collection under his skin and elevated protein in his urine—signs that his kidneys were failing. Doctors identified his disease as a form of nephrotic syndrome, one of the three main types of chronic kidney disease. The disease was proving to be hard to treat: Ten weeks of steroids had produced no result, and an immunosuppressant hadn’t been effective enough to justify its harsh side effects.

Only within the last year, genetic research has revealed that more than 30 percent of childhood chronic kidney diseases—like this child’s—stem from single mutations in single genes.

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Test licensed for devastating kidney disease

A glomerulus (Gray's Anatomy)

Focal segmental glomerulosclerosis (FSGS) is the second leading cause of kidney failure in children. It ruthlessly attacks the kidney’s filtering system: The glomeruli, tiny clusters of capillaries within each nephron that filter toxins from the blood, scar, harden and stop working. Patients are forced onto chronic dialysis and, all too often, need a kidney transplant.

“To make matters worse, many patients have recurrence of the disease soon after transplant,” says William Harmon, MD, chief of Children’s Division of Nephrology. “First it ruins your native kidney, then it can return instantly in the transplant and ruin that also.” Amazingly, this can sometimes happen within hours of transplantation.

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