MEDiscuss • Medical News • Copy number variation found to cause rare kidney disease
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Copy number variation found to cause rare kidney disease
Researchers have identified a rare form of kidney disease linked to a genetic mutation in the innate immune system. So far, the disease, which the researchers have named CFHR5 nephropathy, has been identified in over one hundred people, all of whom are of Cypriot descent, including some living in the UK. Symptoms include blood in the urine – both microscopic and, occasionally, visible – and progressive kidney malfunction.
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