Genetic Mutation Causes Lethal Kidney Disease
Scientists at the U-M Medical School have found a genetic mutation that causes
one type of nephronophthisis, or NPHP — a rare disease that leads to kidney
failure in infants, children and young adults. NPHP is the most common genetic
cause of kidney failure in children and young adults. Other than dialysis or
a kidney transplant, there is no treatment and no cure.
 Friedhelm Hildebrandt
Photo: Martin Vloet |
"We can do the diagnostics and confirm for the patient that this is the disease
they have, but we cannot offer any treatment," says Friedhelm Hildebrandt,
M.D., the U-M's Frederick G.L. Huetwell Professor for the Cure and Prevention
of Birth Defects. "Our only hope is to work out the mechanism to understand
where it comes from. Now that we have the gene, at least we know where to start
asking questions."
Working with an international team of scientists, Hildebrandt and Edgar A.
Otto, Ph.D., a U-M research investigator, found that children who inherit,
from both parents, mutated forms of a gene called inversin develop nephronophthisis
type 2, which causes renal failure in infancy. Results from the U-M study were
published in the August 2003 issue of Nature
Genetics.
Finding the gene responsible for NPHP2 is important, not only because it could
lead to a future treatment, but also because of intriguing links between NPHP2
and a life-threatening genetic disorder called polycystic kidney disease, which
affects 500,000 people, mostly adults, in the U.S.
The study was funded by the German Research Foundation (DFG), the National
Institutes of Health and the University of Michigan. Other collaborators from
the U-M Medical School were John F. O' Toole, M.D., a resident in internal
medicine; research fellows Julia Hoefele, M.D., Rainer Ruf, M.D., and Matthias
T. Wolf, M.D.; and research assistants Frank Beekmann, Karl S. Hiller and Adelheid
M. Mueller.
-SFP
Read an expanded version of this story:
www.med.umich.edu/opm/newspage/2003/kidney.htm
Learn more about Hildebrandt and his research:
www.med.umich.edu/hg/RESEARCH/FACULTY/Hildebrandt/hildebrandt.htm
Read the published paper in Nature Genetics (34) 413-420, August 2003: www.nature.com/ng
 
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