Researchers Spot Mutant Gene Behind Defects That Can Cause Kidney Failure
Discovery could help doctors identify those at risk for the kidney, urinary tract defects
Thursday, July 18, 2013
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 the 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 mutation.
The research team plans to do more genetic testing, to identify other mutations that can cause urinary tract defects.