Health Watch -- Kidney Cysts

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One gene may be at the root of two kinds of kidney disease.

A rare form of diabetes that affects the kidneys and a genetic kidney cyst disorder may be caused by problems with the same gene, according to researchers at UT Southwestern Medical Center at Dallas.

Maturity-onset diabetes of the young type 5 is a rare, inherited form of diabetes that is associated with congenital abnormalities of the kidneys. The condition causes large, fluid-filled cysts in the kidneys that lead to kidney failure.

Researchers studying the genetic roots of this disease to better understand why the kidney cysts form looked at other genes that were involved in cyst formation. They were surprised to find that this disease involved mutations in one of the same genes as those that cause autosomal recessive polycystic kidney disease. This is a fairly common genetic disease that affects between 1 in 10,000 to 40,000 babies and is often fatal within the first month of life.

Researchers then found that the gene primarily involved in this disease was regulated by the protein primarily involved in the diabetic kidney problem.

Dr. Thomas Hiesberger, the UT Southwestern researcher who led the study, says that this link between the two diseases may help lead to treatments for both diseases. The next step for researchers is to discover how and why mutation of the key gene causes cysts to develop.

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April 2004

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