William Harmon, MD, a pioneer in pediatric dialysis and kidney transplantation, passed away on May 29, 2016 after 45 years at Boston Children’s Hospital. He was 72 years old. Starting as an intern in 1971, the year the hospital performed its first kidney transplant, he worked his way up to Nephrologist-in-Chief, a position he held for 25 years.
Harmon was passionate about caring for children with end-stage renal disease (ESRD), pioneering techniques and devices to adapt hemodialysis to infants and young children. He helped get NIH support for child-specific transplant research and led multiple clinical trials of treatment protocols to help children not only tolerate their transplants, but thrive. He also worked to ensure that government guidelines and legislation on ESRD and kidney transplant gave priority to children.
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. In fact, new research supports pursuing a genetic diagnosis for this common condition, especially in kids. …
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.
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. …
Part 1 of a two-part series on kidney disease. Part 2 is here.
In up to 5 percent of all pregnancies, children are born with some degree of kidney dilation or swelling, known as hydronephrosis. Unfortunately, says urologist Richard Lee, MD, of Boston Children’s Hospital, “many of these kids go through a lot of testing after birth and are followed for a long period of time—sometimes unnecessarily.”
Hoping to reduce such testing, Lee and his colleagues are turning to urine. They’ve been collecting comprehensive data on the urinary proteome—all the proteins urine normally contains. With this baseline information, they hope to establish biomarkers that identify kidney damage.
In a recently published study, Lee and his coauthors compared the urinary proteomes of healthy infant boys versus men to find out what happens naturally with age. Through their work, they identified nearly 1,600 protein groups and determined that the healthy male urinary proteome changes over time. …
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. …
In polycystic kidney disease, fluid-filled cysts gradually take over the kidneys, forcing patients to go on chronic dialysis — or wait for a kidney transplant. Hopes for a cure were raised when animal models showed promise in drugs inhibiting mTOR, a protein that coordinates cell growth and is over-active in PKD. But recent clinical trials brought disappointing results.
Probing deeper into the biology, Jordan Kreidberg and Shan Qin at Children’s Hospital Boston have opened up a new option. …