A breakthrough in genetic research in June 2011 uncovered the defect behind a rare hereditary children's disease that inhibits the body's ability to break down vitamin D. This discovery led researchers to develop the first genetic and biochemical tests that positively identify the disease. Until the discovery there was no way of confirming the diagnosis.
The hereditary children's disease, Idiopathic Infantile Hypercalcemia (IIH) is among the top ten most common inherited diseases. The body's inability to break down vitamin D results in an excess of calcium in the blood. Children with IIH suffer from calcifications and tissue hardening throughout the body, as well as calcification of the kidneys and renal failure.
According to estimates by researchers one in every 47000 people around 600 Canadians and 6000 Americans may suffer from IIH.
Developing a positive diagnostic test for IIH is being deemed as a first major step in understanding the disease.
This research was conducted in collaboration with pediatricians Martin Konrad and Karl-Peter Schlingmann from the University Children's Hospital in Munster, Germany, and funded in part by the Canadian Institutes of Health Research. The findings were published on 15 June in the New England Journal of Medicine.
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