Chronic kidney disease linked to a single gene mutation

New research in the US has found that a mutation in a single gene causes a form of chronic kidney disease.

The researchers studied a New Zealand family in which some members suffered from familial focal segmental glomerulosclerosis or FSGS, a type of kidney disease that can lead to complete kidney failure.

The scientists from Duke University Medical Center found a mutation in a gene called transient receptor potential cation channel 6 or TRPC6, in every family member who had FSGS.

This finding may well lead to more effective treatments for the disease, which is on the increase in the United States, particularly among African-Americans.

FSGS affects 20 percent of patients undergoing dialysis, a process where a patient's blood is pumped through a machine that filters out wastes and other products, a function the kidneys would normally do.

The report is published in Science Express and in the early online version of the journal Science.


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