Gene mutations predict early, severe form of kidney disease

October 24, 2011

The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly gets worse and leads to kidney failure.

Most ADPKD cases arise in adults, but some patients show severe symptoms of the disease in early childhood. New research indicates that these severely affected patients carry, in addition to expected inherited genetic defects, further mutations that aggravate the disease.The study, conducted by Carsten Bergmann, MD (Bioscientia Center for Ingelheim and RWTH Aachen University, in Germany) and his colleagues appears in an upcoming issue of the Journal of the (JASN), a publication of the American Society of Nephrology..

The researchers studied eight pedigrees in which the severely affected patients were the only family members who had gene mutations other than those that are known to cause ADPKD.

The analysis revealed that additional mutations worsen the disease and contribute to early and severe symptoms.

"Our findings are crucial for understanding , and they help explain why one family member might be profoundly affected while another one only shows mild clinical features," said Dr. Bergmann. He added that similar events may occur in other diseases that range in severity.

The results may help clinicians as they provide genetic counseling for ADPKD patients, as few know that their future children could develop an early, severe form of the disease. The findings might also help investigators design new therapies for ADPKD.

Explore further: New drug target for kidney disease discovered

More information: The article, entitled "Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease," will appear online on Monday, October 24, 2011, doi: 10.1681/ASN.2010101080

Related Stories

New drug target for kidney disease discovered

April 26, 2011

Two discoveries at UC Santa Barbara point to potential new drug therapies for patients with kidney disease. The findings are published in this week's issue of the Proceedings of the National Academy of Sciences.

Recommended for you

New class of RNA tumor suppressors identified

November 23, 2015

A pair of RNA molecules originally thought to be no more than cellular housekeepers are deleted in over a quarter of common human cancers, according to researchers at the Stanford University School of Medicine. Breast cancer ...

Batten disease may benefit from gene therapy

November 11, 2015

In a study of dogs, scientists showed that a new way to deliver replacement genes may be effective at slowing the development of childhood Batten disease, a rare and fatal neurological disorder. The key may be to inject viruses ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.