Stories about: dialysis

Nathan’s wild ride: An appendectomy, two transplants and the journey ahead

Nathan - intestine and kidney transplant recipient
Nathan, pre-transplant, during his Make-A-Wish trip to the San Diego Zoo

When the phone rang at the Natale family home in Loudonville, New York, during the early morning hours of Jan. 12, 2013, Nathan Natale knew exactly what it meant.

“My little sister had someone sleeping over. And I was like, ‘hello parents of friend, we gotta go.’”

The phone call was from Boston Children’s Hospital. A donor match had been found. The Natales quickly packed, hopped in the car and began the three-hour journey to the hospital for Nathan’s kidney and intestine transplant. But Nathan’s transplant journey didn’t begin here. It began five years earlier following a routine surgery.

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Gene for devastating kidney disease discovered

stockphotopro_4658724TJN_closeup_of_a_yoA genetic discovery by researchers at Children’s and Brigham and Women’s Hospital brings new hope for a mysterious, devastating kidney disease called focal segmental glomerulosclerosis (FSGS). It’s the second leading cause of kidney failure in children and forces patients onto dialysis and, all too often, kidney transplant – only to recur in the transplanted kidney, sometimes within hours.

The research team, led by Elizabeth Brown, MD, of Children’s Division of Nephrology, performed a genetic linkage analysis in two large families with FSGS and identified a variety of mutations in a gene known as INF2. They then sequenced INF2 in 91 additional families. In all, they found INF2 mutations in 11 of 93 families, as reported online in Nature Genetics on December 20.

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