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Researchers shed light on mechanism behind chronic kidney disease

Researchers shed light on mechanism behind chronic kidney disease
11th July 2012

Researchers have shed light on a mechanism behind chronic kidney disease, which was previously thought to be unrelated to the condition.

A study at C.S. Mott's Children's hospital found a new single-gene cause of chronic kidney disease using an entire exome sequencing.

Senior author Friedhelm Hildebrandt and his team studied a model disorder for renal fibrosis, nephronophthisis and discovered mutations of Fanconi anemia-associated nuclease 1 (FAN1) lead to karyomegalic interstitial nephritis (KIN) in patients with chronic kidney disease.

The findings identify that susceptibility to environmental genotoxins and inadequate DNA repair can lead to chronic kidney disease, offering potential new treatment pathways.

Dr Hildebrandt explained that the discovery is vital as "in developed countries, the frequency of chronic kidney disease is continually increasing for unknown reasons. The disease is a major health burden."

What's more, those with chronic kidney disease are more likely to experience coronary problems and using the findings to tackle the condition could help to reduce incidents of heart attack in the UK.

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