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.
“The minute we find a mutation that causes disease, we have the cause of disease in hand,” saysFriedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children’s Hospital. “And finding the cause has consequences for therapy.”
Single-gene causes of kidney stones
In 2014, a study led by Hildebrandt identified a causative single-gene mutation in a surprising 21 percent of children and 11 percent of adults. “We therefore wanted to study a pediatric cohort of our own patients at Boston Children’s Hospital,” Hildebrandt says.
In a second study, he and his colleagues analyzed 30 known causative genes in 143 children with kidney stones (nephrolithiasis) or nephrocalcinosis, a related condition in which calcium deposits form directly in the kidney tissue. As reported in the January 2016 Clinical Journal of the American Society of Nephrology, they found a similarly high percentage of patients (17 percent) with causative mutations, including children with only one stone so far.
Read the full post on Vector: Personalized medicine for kidney stones
The opinions expressed in this blog post are the author’s only and do not necessarily reflect those of MassDevice.com or its employees.
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