Researchers Spot Mutant Gene Behind Defects That Can Cause Kidney Failure07/18/13
THURSDAY, July 18 (HealthDay News) -- Scientists say they've
identified a genetic mutation that causes kidney and urinary tract
This is a common type of birth defect, and the leading cause of
kidney failure in children.
Columbia University researchers studied a family on the island
of Sardinia with inherited kidney and urinary tract defects.
Several members of the family had suffered kidney failure at a
young age. All of the family members with kidney and urinary tract
defects had a mutation in a gene called dual serine/threonine and
tyrosine protein kinase (DSTYK).
The researchers then looked at 311 unrelated people with urinary
tract defects from around Europe. They found that seven of them had
DSTYK mutations, according to the study published online July 17 in
New England Journal of Medicine.
"These findings indicate that DSTYK mutations account for 2.2 percent of urinary tract defects in humans, which is very significant as a single-gene cause of this disease," study author Dr. Simone Sanna-Cherchi said in a Columbia University Medical Center news release.
Some people with inherited urinary tract defects have kidney
failure at birth, while in others the defects are not evident until
complications arise, sometimes years later. The discovery of this
gene mutation will enable doctors to identify people with the
The research team plans to do more genetic testing, to identify
other mutations that can cause urinary tract defects.
The National Kidney Foundation has more about
kidney and urinary tract birth defects.
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